A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6886199



Internal ID9934553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:32999408..33002159hg38UCSC Ensembl
Outerchr2:33224475..33227226hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382752
hg192752
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719883
Supporting Variants
SamplesSSM096
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)essv6886199
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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