A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640817



Internal ID7027591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54236732..54246131hg38UCSC Ensembl
Innerchr17:54236749..54246114hg38UCSC Ensembl
Outerchr17:54236715..54246148hg38UCSC Ensembl
chr17:52314093..52323492hg19UCSC Ensembl
Innerchr17:52314110..52323475hg19UCSC Ensembl
Outerchr17:52314076..52323509hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg389400
hg199400
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15701744
SamplesHG03136
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640817
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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