A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11413525



Internal ID890815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:43319846..43320925hg38UCSC Ensembl
Innerchr4:43319846..43320925hg38UCSC Ensembl
Outerchr4:43319561..43321191hg38UCSC Ensembl
chr4:43321863..43322942hg19UCSC Ensembl
Innerchr4:43321863..43322942hg19UCSC Ensembl
Outerchr4:43321578..43323208hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg381080
hg191080
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600372
Supporting Variants
SamplesHG00479
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11413525
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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