A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595908



Internal ID6636182
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10983763, essv10983762
SamplesHG03096, HG03397
Known GenesSLC22A13, SLC22A14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595908
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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