A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676119



Internal ID9942224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:82766597..82769403hg38UCSC Ensembl
Outerchr5:82766076..82770023hg38UCSC Ensembl
Innerchr5:82062416..82065222hg19UCSC Ensembl
Outerchr5:82061895..82065842hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg383948
hg193948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1026e199
Supporting Variantsessv5731179, essv6303042, essv5506782, essv6507142, essv6477929, essv5914418, essv6510842, essv6277061, essv6152239, essv6357526, essv5612000, essv6043135, essv6319766, essv6527999, essv6151800, essv6524669, essv6202034, essv6019776, essv6456253, essv5553558, essv5742873, essv5853356, essv5655088, essv6125773, essv6467848, essv6074342, essv5953335, essv5715415, essv5771859, essv5831791, essv5770786
SamplesNA19397, NA19466, NA19204, NA18917, NA19355, NA19377, NA19443, NA19190, NA19098, NA19107, NA19171, NA19379, NA18874, NA18520, NA19209, NA19200, NA18910, NA19461, NA18912, NA18853, NA19452, NA19390, NA19256, NA19434, NA19331, NA19398, NA19474, NA18873, NA19316, NA19429, NA19153
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676119
Frequency
Sample Size1151
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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