A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607129



Internal ID6994064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148845178..148845697hg38UCSC Ensembl
Innerchr5:148845180..148845695hg38UCSC Ensembl
Outerchr5:148845176..148845699hg38UCSC Ensembl
chr5:148224741..148225260hg19UCSC Ensembl
Innerchr5:148224743..148225258hg19UCSC Ensembl
Outerchr5:148224739..148225262hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38520
hg19520
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12094302, essv12094294, essv12094306, essv12094309, essv12094299, essv12094297, essv12094300, essv12094303, essv12094314, essv12094301, essv12094307, essv12094313, essv12094295, essv12094311, essv12094305, essv12094304, essv12094312, essv12094296, essv12094310, essv12094298, essv12094308
SamplesHG00403, HG03241, NA18979, NA19057, HG01847, NA19081, NA18572, NA18981, NA19064, HG00404, NA18945, HG00375, NA19090, NA18992, NA19360, HG00343, NA18984, HG00472, NA19146, NA18623, NA18965
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607129
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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