A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737692



Internal ID10321328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:138691621..138692552hg38UCSC Ensembl
Outerchr8:139703864..139704795hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38932
hg19932
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6734831, essv6672223, essv6823080
SamplesSSM079, SSM031, SSM049
Known GenesCOL22A1
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)esv2737692
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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