A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11316917



Internal ID6747135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2518745..2527859hg38UCSC Ensembl
Innerchr4:2518794..2527810hg38UCSC Ensembl
Outerchr4:2518696..2527908hg38UCSC Ensembl
chr4:2520472..2529586hg19UCSC Ensembl
Innerchr4:2520521..2529537hg19UCSC Ensembl
Outerchr4:2520423..2529635hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg389115
hg199115
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599404
Supporting Variants
SamplesNA20863
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11316917
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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