A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614661



Internal ID7001554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:114075872..114077907hg38UCSC Ensembl
Innerchr7:114075873..114077907hg38UCSC Ensembl
Outerchr7:114075872..114077908hg38UCSC Ensembl
chr7:113715927..113717962hg19UCSC Ensembl
Innerchr7:113715928..113717962hg19UCSC Ensembl
Outerchr7:113715927..113717963hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg382036
hg192036
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12932322, essv12932336, essv12932314, essv12932316, essv12932291, essv12932334, essv12932342, essv12932343, essv12932321, essv12932324, essv12932300, essv12932339, essv12932325, essv12932312, essv12932340, essv12932326, essv12932332, essv12932327, essv12932296, essv12932292, essv12932335, essv12932317, essv12932319, essv12932298, essv12932297, essv12932301, essv12932337, essv12932330, essv12932341, essv12932311, essv12932331, essv12932320, essv12932295, essv12932328, essv12932338, essv12932304, essv12932290, essv12932323, essv12932299, essv12932310, essv12932289, essv12932303, essv12932307, essv12932329, essv12932313, essv12932288, essv12932294, essv12932318, essv12932308, essv12932305, essv12932306, essv12932309, essv12932333, essv12932293, essv12932315, essv12932302
SamplesHG02496, HG03548, NA19204, NA20514, HG03241, NA19819, HG03515, NA19443, HG03478, HG01694, NA19198, NA20769, NA19131, HG03342, NA20287, HG03209, NA19041, HG03268, HG02885, NA19026, NA19445, HG03055, NA19921, HG01139, HG02977, HG03088, NA19175, HG02678, NA18516, HG02144, HG03124, NA19461, NA19338, HG03354, HG02594, HG02568, HG02722, HG03028, NA19440, HG02807, NA18517, HG01894, HG02923, NA19324, NA19310, NA19475, HG03432, HG03279, NA19474, HG03060, HG02676, HG03470, NA19030, HG02629, HG03303, HG03271
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614661
Frequency
Sample Size2504
Observed Gain0
Observed Loss56
Observed Complex0
Frequencyn/a


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