A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595418



Internal ID6982736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:17337662..17346189hg38UCSC Ensembl
Innerchr3:17337681..17346170hg38UCSC Ensembl
Outerchr3:17337643..17346208hg38UCSC Ensembl
chr3:17379154..17387681hg19UCSC Ensembl
Innerchr3:17379173..17387662hg19UCSC Ensembl
Outerchr3:17379135..17387700hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg388528
hg198528
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10939161
SamplesHG01846
Known GenesTBC1D5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595418
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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