A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731874



Internal ID9966192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32827743..32827883hg38UCSC Ensembl
Outerchr6:32795520..32795660hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6849123, essv6865590, essv6963728
SamplesSSM027, SSM089, SSM086
Known GenesTAP2
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)esv2731874
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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