A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6766803



Internal ID9829027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:112776292..112776750hg38UCSC Ensembl
Outerchr2:113533869..113534327hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38459
hg19459
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720538, esv2720540
Supporting Variants
SamplesSSM064
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)essv6766803
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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