A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721038



Internal ID9955334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:160120265..160120822hg38UCSC Ensembl
Outerchr2:160976776..160977333hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38558
hg19558
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6752220, essv6973111, essv6933751, essv6788010
SamplesSSM009, SSM029, SSM021, SSM008
Known GenesITGB6
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)esv2721038
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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