A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640887



Internal ID6680972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58534199..58553600hg38UCSC Ensembl
Innerchr17:58534199..58553600hg38UCSC Ensembl
Outerchr17:58533699..58554100hg38UCSC Ensembl
chr17:56611560..56630961hg19UCSC Ensembl
Innerchr17:56611560..56630961hg19UCSC Ensembl
Outerchr17:56611060..56631461hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3819402
hg1919402
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15711217
SamplesHG01164
Known GenesC17orf47, SEPT4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640887
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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