A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640867



Internal ID6680952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:57084688..57093535hg38UCSC Ensembl
Innerchr17:57084703..57093521hg38UCSC Ensembl
Outerchr17:57084674..57093550hg38UCSC Ensembl
chr17:55162049..55170896hg19UCSC Ensembl
Innerchr17:55162064..55170882hg19UCSC Ensembl
Outerchr17:55162035..55170911hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg388848
hg198848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15708131
SamplesHG03967
Known GenesAKAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640867
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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