A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10946280



Internal ID1044872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:20968005..20972016hg38UCSC Ensembl
Innerchr3:20968005..20972016hg38UCSC Ensembl
Outerchr3:20967586..20972429hg38UCSC Ensembl
chr3:21009497..21013508hg19UCSC Ensembl
Innerchr3:21009497..21013508hg19UCSC Ensembl
Outerchr3:21009078..21013921hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg384012
hg194012
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595494
Supporting Variants
SamplesHG00663
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10946280
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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