A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002417



Internal ID6714551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:38609080..38611594hg38UCSC Ensembl
Outerchr20:37237723..37240237hg19UCSC Ensembl
Outerchr20:36671137..36673651hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg382515
hg192515
hg182515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563462
SamplesHuRef
Known GenesARHGAP40
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002417
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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