A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9920056



Internal ID5958443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41606010..41606933hg38UCSC Ensembl
Innerchr1:41606010..41606933hg38UCSC Ensembl
Outerchr1:41605695..41607327hg38UCSC Ensembl
chr1:42071681..42072604hg19UCSC Ensembl
Innerchr1:42071681..42072604hg19UCSC Ensembl
Outerchr1:42071366..42072998hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38924
hg19924
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585828
Supporting Variants
SamplesNA19376
Known GenesHIVEP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9920056
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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