A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6671499



Internal ID9993878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:36505401..36505728hg38UCSC Ensembl
Outerchr2:36732544..36732871hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719922
Supporting Variants
SamplesSSM005
Known GenesCRIM1
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)essv6671499
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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