A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11054444



Internal ID5045897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81855938..81864805hg38UCSC Ensembl
Innerchr3:81856438..81864305hg38UCSC Ensembl
Outerchr3:81854938..81865805hg38UCSC Ensembl
chr3:81905089..81913956hg19UCSC Ensembl
Innerchr3:81905589..81913456hg19UCSC Ensembl
Outerchr3:81904089..81914956hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg388868
hg198868
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596754
Supporting Variants
SamplesNA18530
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11054444
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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