A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733230



Internal ID9967553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167249885..167408649hg38UCSC Ensembl
Outerchr6:167663373..167822137hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38158765
hg19158765
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6680523, essv6826552, essv6723371, essv6786529, essv6734459, essv6751718, essv6939168, essv6855437, essv6930593, essv6715675, essv6929973, essv6861034, essv6943597, essv6704721, essv6760161, essv6963958, essv6796832, essv6767650, essv6711970, essv6934877, essv6694312, essv6872887, essv6698025, essv6826551, essv6889177, essv6957249, essv6679866, essv6887125, essv6794800, essv6796843, essv6943598, essv6782352, essv6957247, essv6786530, essv6918978, essv6957253, essv6837571, essv6957252, essv6903851, essv6869885, essv6770951, essv6711971, essv6865757, essv6969517, essv6694313, essv6740123, essv6947946, essv6760162, essv6845082, essv6963960, essv6687374, essv6869886, essv6869888, essv6774713, essv6923211, essv6731008, essv6805555, essv6770952, essv6934876, essv6814456, essv6751719, essv6805557, essv6957248, essv6731011, essv6731010, essv6855436, essv6799013, essv6881532, essv6915184, essv6969516, essv6690600, essv6855435, essv6975041, essv6805556, essv6841392, essv6887124, essv6802677, essv6887126, essv6671344, essv6794799, essv6729932, essv6818411, essv6911482, essv6814455, essv6715673, essv6746057, essv6957250, essv6708563, essv6875855, essv6765118, essv6694314, essv6964817, essv6899821, essv6767649, essv6903850, essv6729920, essv6952044, essv6907735, essv6727254, essv6811430, essv6790653, essv6687377, essv6715674, essv6881530, essv6774714, essv6943594, essv6737082, essv6679877, essv6676715, essv6757506, essv6899812, essv6694315, essv6734460, essv6676716, essv6845081, essv6719578, essv6923212, essv6684117
SamplesSSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, SSM042, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM032, SSM024, SSM045, SSM094, SSM083, SSM050, SSM041, SSM077, SSM005, SSM012, SSM100, SSM085, SSM017, SSM009, SSM066, SSM028, SSM029, SSM003, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM096, SSM023, SSM052, SSM068, SSM044, SSM074, SSM015, SSM026, SSM014, SSM049, SSM018, SSM076, SSM059, SSM070, SSM080
Known GenesTCP10, TTLL2, UNC93A
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)esv2733230
Frequency
Sample Size96
Observed Gain0
Observed Loss73
Observed Complex0
Frequencyn/a


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