A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640539



Internal ID6680626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39160220..39173047hg38UCSC Ensembl
Innerchr17:39160220..39173047hg38UCSC Ensembl
Outerchr17:39159923..39173343hg38UCSC Ensembl
chr17:37316473..37329300hg19UCSC Ensembl
Innerchr17:37316473..37329300hg19UCSC Ensembl
Outerchr17:37316176..37329596hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3812828
hg1912828
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15674302, essv15674301, essv15674300, essv15674303
SamplesHG01815, HG02409, HG02048, HG01866
Known GenesARL5C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640539
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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