A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11957874



Internal ID2185644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:82860424..82875045hg38UCSC Ensembl
Innerchr5:82860428..82875041hg38UCSC Ensembl
Outerchr5:82860420..82875049hg38UCSC Ensembl
chr5:82156243..82170864hg19UCSC Ensembl
Innerchr5:82156247..82170860hg19UCSC Ensembl
Outerchr5:82156239..82170868hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg3814622
hg1914622
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605623
Supporting Variants
SamplesHG01973
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11957874
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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