A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609112



Internal ID6996034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57051009..57051718hg38UCSC Ensembl
Innerchr6:57051020..57051708hg38UCSC Ensembl
Outerchr6:57050999..57051729hg38UCSC Ensembl
chr6:56915807..56916516hg19UCSC Ensembl
Innerchr6:56915818..56916506hg19UCSC Ensembl
Outerchr6:56915797..56916527hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38710
hg19710
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12367339, essv12367304, essv12367310, essv12367292, essv12367300, essv12367333, essv12367281, essv12367312, essv12367315, essv12367313, essv12367329, essv12367283, essv12367306, essv12367298, essv12367280, essv12367334, essv12367325, essv12367321, essv12367314, essv12367308, essv12367278, essv12367287, essv12367296, essv12367316, essv12367311, essv12367330, essv12367303, essv12367328, essv12367302, essv12367320, essv12367332, essv12367319, essv12367275, essv12367309, essv12367336, essv12367327, essv12367324, essv12367295, essv12367286, essv12367289, essv12367279, essv12367291, essv12367322, essv12367299, essv12367282, essv12367331, essv12367335, essv12367294, essv12367340, essv12367337, essv12367293, essv12367274, essv12367318, essv12367338, essv12367307, essv12367301, essv12367288, essv12367285, essv12367317, essv12367323, essv12367276, essv12367326, essv12367290, essv12367277, essv12367297, essv12367284, essv12367305
SamplesNA19394, NA19141, NA19700, NA19204, HG03111, NA19378, HG03241, HG02836, HG03100, HG03126, NA19190, HG02769, HG03464, NA19119, NA19198, HG02549, NA18916, HG03342, HG03578, NA19457, NA19904, HG02922, HG02489, HG02315, HG03268, NA19917, HG01892, HG03369, HG01139, NA19437, HG03511, HG03088, HG01095, NA19913, HG02108, NA18516, HG02953, NA18910, HG03159, HG02968, HG02497, HG03294, HG03397, NA18912, NA19095, HG01896, NA19436, HG02772, HG02255, HG02330, NA19206, NA19390, HG03240, NA19256, NA19712, HG02010, NA20351, HG03469, HG03433, NA19310, NA19376, NA19900, HG01914, NA19030, HG02805, HG03118, HG03196
Known GenesKIAA1586
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609112
Frequency
Sample Size2504
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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