A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10947465



Internal ID3303609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:21573773..21575124hg38UCSC Ensembl
Innerchr3:21573773..21575124hg38UCSC Ensembl
Outerchr3:21573554..21575224hg38UCSC Ensembl
chr3:21615265..21616616hg19UCSC Ensembl
Innerchr3:21615265..21616616hg19UCSC Ensembl
Outerchr3:21615046..21616716hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg381352
hg191352
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595515
Supporting Variants
SamplesHG02944
Known GenesZNF385D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10947465
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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