A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720541



Internal ID9954837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:112776485..112776637hg38UCSC Ensembl
Outerchr2:113534062..113534214hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6853777, essv6847584
SamplesSSM087, SSM086
Known GenesIL1A
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)esv2720541
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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