A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731822



Internal ID9966140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31388449..31504953hg38UCSC Ensembl
Outerchr6:31356226..31472730hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38116505
hg19116505
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6855169, essv6719365, essv6790478, essv6798790, essv6872683, essv6764972, essv6883375, essv6887766, essv6704950, essv6723182, essv6814268, essv6734318, essv6814267, essv6878588, essv6875663, essv6770781, essv6774565, essv6671065, essv6711804, essv6883708, essv6951373, essv6782144, essv6899652, essv6754481, essv6794618, essv6794619, essv6951262, essv6743122, essv6841222, essv6811275, essv6808360, essv6734317, essv6822409, essv6849073, essv6884181, essv6748703, essv6754479, essv6805370, essv6865548, essv6751557, essv6677999, essv6960318, essv6694118, essv6860787, essv6704953, essv6778135, essv6711801, essv6860784, essv6844889, essv6960307, essv6918733, essv6770779, essv6794798, essv6730853, essv6903700, essv6872684, essv6727079, essv6748699, essv6727080, essv6671064, essv6704951, essv6974723, essv6878587, essv6715483, essv6671061, essv6837415, essv6943352, essv6794821, essv6903699, essv6808359, essv6893495, essv6865547, essv6778139, essv6881370, essv6711802, essv6730852, essv6759994, essv6878589, essv6719363, essv6715484, essv6833726, essv6739953, essv6808361, essv6751556, essv6974722, essv6786343, essv6844885, essv6918730, essv6951150, essv6837413, essv6703421, essv6938948, essv6754482, essv6786341, essv6748702, essv6872685, essv6899653, essv6860785, essv6778133, essv6762605, essv6883597, essv6794787, essv6798789, essv6956934, essv6727078, essv6728409, essv6923021, essv6951834, essv6774566, essv6960296, essv6860782, essv6701012, essv6683968, essv6762606, essv6782145, essv6943353, essv6671067, essv6676498, essv6762607, essv6837414, essv6911313, essv6947757, essv6778134, essv6883819, essv6778140, essv6790477, essv6926746, essv6825687, essv6849074, essv6762604, essv6708388, essv6915036, essv6974721, essv6918732, essv6748701, essv6759993, essv6802548, essv6927851, essv6671063, essv6703410, essv6743120, essv6887777, essv6711803, essv6918736, essv6896759, essv6855168, essv6844888, essv6794620, essv6841221, essv6818173, essv6818174, essv6899655, essv6814269, essv6728376, essv6963659, essv6743123, essv6896760, essv6704952, essv6943349, essv6701011, essv6825676, essv6703377, essv6915035, essv6896758, essv6926747, essv6703399, essv6826344, essv6794809, essv6951835, essv6708386
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM091, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM031, SSM025, SSM072, SSM071, SSM016, SSM057, SSM001, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM066, SSM029, SSM003, SSM095, SSM047, SSM073, SSM069, SSM002, SSM037, SSM034, SSM063, SSM087, SSM046, SSM019, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM049, SSM098, SSM018, SSM076, SSM058, SSM070, SSM080
Known GenesHCG26, HCP5, MICA, MICB
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2731822
Frequency
Sample Size96
Observed Gain0
Observed Loss77
Observed Complex0
Frequencyn/a


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