A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6821469



Internal ID10222804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:36728524..36728913hg38UCSC Ensembl
Outerchr2:36955667..36956056hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38390
hg19390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719924
Supporting Variants
SamplesSSM079
Known GenesVIT
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)essv6821469
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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