A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720487



Internal ID9954783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:106313878..106314553hg38UCSC Ensembl
Outerchr2:106930334..106931009hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg38676
hg19676
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6736251, essv6750877, essv6874984, essv6844184, essv6753777, essv6683129, essv6933690, essv6962109, essv6756790
SamplesSSM059, SSM027, SSM050, SSM057, SSM058, SSM092, SSM021, SSM085, SSM034
Known Genes
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)esv2720487
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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