A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671203



Internal ID9937308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38077591..38080750hg38UCSC Ensembl
chr8:37935109..37938268hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg383160
hg193160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6591284, essv6429919, essv6292988, essv6070822, essv5534968, essv5917392, essv5490165
SamplesNA19397, NA19443, HG00629, HG01187, NA19056, HG00463, NA19439
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671203
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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