A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643608



Internal ID7030367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8173729..8175849hg38UCSC Ensembl
Innerchr19:8173731..8175847hg38UCSC Ensembl
Outerchr19:8173727..8175851hg38UCSC Ensembl
chr19:8238613..8240733hg19UCSC Ensembl
Innerchr19:8238615..8240731hg19UCSC Ensembl
Outerchr19:8238611..8240735hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382121
hg192121
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15987809, essv15987812, essv15987813, essv15987807, essv15987811, essv15987810, essv15987814, essv15987806, essv15987808
SamplesNA19141, HG03095, HG03464, HG03209, HG03088, HG03109, HG02455, HG03259, NA18876
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643608
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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