A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715506



Internal ID9949793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:2948190..2949054hg38UCSC Ensembl
Outerchr17:2851484..2852348hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38865
hg19865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv402e201
Supporting Variantsessv6843128, essv6820415, essv6936889, essv6852202, essv6885500, essv6725133, essv6901093, essv6820416
SamplesSSM086, SSM084, SSM078, SSM045, SSM100, SSM095, SSM021
Known GenesRAP1GAP2
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2715506
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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