A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6852202



Internal ID9903777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:2948539..2948659hg38UCSC Ensembl
Outerchr17:2851833..2851953hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715509, esv2715510, esv2715506
Supporting Variants
SamplesSSM086
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)essv6852202
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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