A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595342



Internal ID6982660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:12868694..12876051hg38UCSC Ensembl
Innerchr3:12869194..12875551hg38UCSC Ensembl
Outerchr3:12867694..12877051hg38UCSC Ensembl
chr3:12910193..12917550hg19UCSC Ensembl
Innerchr3:12910693..12917050hg19UCSC Ensembl
Outerchr3:12909193..12918550hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg387358
hg197358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10930990, essv10930991, essv10930992
SamplesHG00306, HG00182, NA20876
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595342
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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