A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10983762



Internal ID985578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:38263985..38306551hg38UCSC Ensembl
Innerchr3:38263987..38306549hg38UCSC Ensembl
Outerchr3:38263983..38306553hg38UCSC Ensembl
chr3:38305476..38348042hg19UCSC Ensembl
Innerchr3:38305478..38348040hg19UCSC Ensembl
Outerchr3:38305474..38348044hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg3842567
hg1942567
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595908
Supporting Variants
SamplesHG03096
Known GenesSLC22A13, SLC22A14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10983762
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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