A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719886



Internal ID9954180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:33256702..33256854hg38UCSC Ensembl
Outerchr2:33481769..33481921hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv593e201
Supporting Variantsessv6847478, essv6729907, essv6968273, essv6933624, essv6669431
SamplesSSM028, SSM021, SSM047, SSM031, SSM086
Known GenesLTBP1
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)esv2719886
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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