A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6938116



Internal ID10045960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:190365777..190366231hg38UCSC Ensembl
Outerchr2:191230503..191230957hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38455
hg19455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721264, esv2721266, esv2721265
Supporting Variants
SamplesSSM022
Known GenesINPP1
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)essv6938116
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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