A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719885



Internal ID9954179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:33256569..33256939hg38UCSC Ensembl
Outerchr2:33481636..33482006hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38371
hg19371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669431, essv6847478, essv6922034, essv6946783, essv6968273, essv6729907, essv6933624
SamplesSSM086, SSM031, SSM024, SSM028, SSM047, SSM021, SSM018
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)esv2719885
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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