A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736785



Internal ID10320421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:26002673..26003396hg38UCSC Ensembl
Outerchr8:25860189..25860912hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38724
hg19724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6701742, essv6771430, essv6834341, essv6791183, essv6827032, essv6845452, essv6799525, essv6830734, essv6795328, essv6677162, essv6964709, essv6841829, essv6900159, essv6919509, essv6923656, essv6904319, essv6716146, essv6958100, essv6778819
SamplesSSM100, SSM071, SSM027, SSM065, SSM039, SSM013, SSM084, SSM018, SSM026, SSM017, SSM032, SSM067, SSM085, SSM081, SSM072, SSM082, SSM080, SSM070, SSM043
Known GenesEBF2
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)esv2736785
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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