A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622406



Internal ID6662576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:13675586..13676458hg38UCSC Ensembl
Innerchr10:13675636..13676408hg38UCSC Ensembl
Outerchr10:13675426..13676618hg38UCSC Ensembl
chr10:13717586..13718458hg19UCSC Ensembl
Innerchr10:13717636..13718408hg19UCSC Ensembl
Outerchr10:13717426..13718618hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38873
hg19873
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13700514, essv13700510, essv13700511, essv13700509, essv13700519, essv13700523, essv13700516, essv13700507, essv13700517, essv13700526, essv13700512, essv13700506, essv13700513, essv13700515, essv13700520, essv13700505, essv13700503, essv13700504, essv13700528, essv13700525, essv13700522, essv13700527, essv13700524, essv13700508, essv13700521, essv13700518
SamplesNA18507, HG02318, HG02485, HG02325, NA18916, NA18498, HG01242, HG03556, HG03195, NA19239, HG03270, NA19908, HG03160, NA18871, HG02757, HG03294, HG02445, HG03046, NA18517, HG02983, HG02095, HG03049, HG03060, NA18873, HG02051, NA18488
Known GenesFRMD4A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622406
Frequency
Sample Size2504
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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