A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640418



Internal ID7027193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:34139532..34143739hg38UCSC Ensembl
Innerchr17:34139559..34143713hg38UCSC Ensembl
Outerchr17:34139506..34143766hg38UCSC Ensembl
chr17:32466551..32470758hg19UCSC Ensembl
Innerchr17:32466578..32470732hg19UCSC Ensembl
Outerchr17:32466525..32470785hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg384208
hg194208
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15661349
SamplesHG00280
Known GenesASIC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640418
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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