A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6669534



Internal ID9741231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:102003033..102003175hg38UCSC Ensembl
Outerchr2:102619495..102619637hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720457, esv2720458, esv2720456
Supporting Variants
SamplesSSM031
Known GenesIL1R2
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)essv6669534
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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