A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6877733



Internal ID9926755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:117150410..117150772hg38UCSC Ensembl
Outerchr1:117693032..117693394hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716640
Supporting Variants
SamplesSSM093
Known GenesVTCN1
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)essv6877733
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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