A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11038392



Internal ID5955652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:71951518..71953685hg38UCSC Ensembl
Innerchr3:71951518..71953685hg38UCSC Ensembl
Outerchr3:71951268..71953950hg38UCSC Ensembl
chr3:72000669..72002836hg19UCSC Ensembl
Innerchr3:72000669..72002836hg19UCSC Ensembl
Outerchr3:72000419..72003101hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg382168
hg192168
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596530
Supporting Variants
SamplesNA19375
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11038392
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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