A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11251568



Internal ID6459573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:182522206..182522859hg38UCSC Ensembl
Innerchr3:182522206..182522859hg38UCSC Ensembl
Outerchr3:182522108..182523018hg38UCSC Ensembl
chr3:182239994..182240647hg19UCSC Ensembl
Innerchr3:182239994..182240647hg19UCSC Ensembl
Outerchr3:182239896..182240806hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38654
hg19654
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598912
Supporting Variants
SamplesNA20516
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11251568
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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