A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731640



Internal ID10315276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:18401843..18402675hg38UCSC Ensembl
Outerchr6:18402074..18402906hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38833
hg19833
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6875625, essv6808319, essv6869608, essv6762559, essv6959795, essv6751526, essv6730793, essv6757332, essv6872649, essv6855119, essv6826301, essv6727865, essv6818117, essv6690344, essv6778100, essv6903651, essv6711755, essv6886949, essv6734283, essv6956880, essv6786304, essv6764934, essv6922975, essv6683933, essv6680318, essv6947715, essv6782102, essv6697860, essv6911238, essv6951794, essv6945484, essv6878264, essv6918664, essv6715422, essv6790427, essv6811228, essv6687174, essv6767445, essv6703088, essv6745888, essv6774539, essv6881332, essv6899608, essv6759961, essv6841166, essv6739906, essv6854776, essv6878543, essv6887375, essv6963604, essv6927407, essv6822381, essv6969277, essv6896711, essv6770710, essv6805338, essv6890134, essv6930368, essv6798749, essv6884142, essv6748667, essv6943274, essv6934626, essv6938904, essv6915001, essv6794571, essv6727044, essv6676462, essv6865494, essv6849005, essv6974657, essv6677588, essv6700974, essv6837345, essv6723151, essv6708337, essv6907453, essv6844819, essv6754456, essv6833690, essv6825253, essv6671013, essv6830106, essv6802504, essv6694077
SamplesSSM100, SSM059, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM073, SSM093, SSM074, SSM042, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM005, SSM080, SSM037, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM049, SSM056, SSM063, SSM012
Known GenesRNF144B
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)esv2731640
Frequency
Sample Size96
Observed Gain0
Observed Loss85
Observed Complex0
Frequencyn/a


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