A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733521



Internal ID10317157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:169765369..169766268hg38UCSC Ensembl
Outerchr6:170165465..170166364hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6926955, essv6757514, essv6818426, essv6711998, essv6708580, essv6762364, essv6762743, essv6737097, essv6962718, essv6754683, essv6969550, essv6975083, essv6865780, essv6963998, essv6861053
SamplesSSM059, SSM008, SSM027, SSM050, SSM042, SSM088, SSM041, SSM058, SSM028, SSM029, SSM062, SSM089, SSM019, SSM078, SSM004
Known GenesERMARD
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)esv2733521
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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