A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6942251



Internal ID10050760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:138872466..138872614hg38UCSC Ensembl
Outerchr2:139630036..139630184hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720879
Supporting Variants
SamplesSSM023
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)essv6942251
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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