A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732410



Internal ID10316046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:89607732..89608076hg38UCSC Ensembl
Outerchr6:90317451..90317795hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6786460, essv6811372, essv6907631, essv6805489, essv6860936, essv6760085, essv6794714, essv6671187
SamplesSSM071, SSM074, SSM088, SSM069, SSM061, SSM031, SSM014, SSM076
Known GenesANKRD6
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)esv2732410
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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