A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10993172



Internal ID5583934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:43664031..43675600hg38UCSC Ensembl
Innerchr3:43664050..43675582hg38UCSC Ensembl
Outerchr3:43664013..43675619hg38UCSC Ensembl
chr3:43705523..43717092hg19UCSC Ensembl
Innerchr3:43705542..43717074hg19UCSC Ensembl
Outerchr3:43705505..43717111hg19UCSC Ensembl
Cytoband3p21.33
Allele length
AssemblyAllele length
hg3811570
hg1911570
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596022
Supporting Variants
SamplesNA19025
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10993172
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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