A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749018



Internal ID9983302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:62686155..62686482hg38UCSC Ensembl
Outerchr1:63151826..63152153hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6864002, essv6669013, essv6972431, essv6895875, essv6686183, essv6810370, essv6892357, essv6859237, essv6821227, essv6889041, essv6906133, essv6844188, essv6785035, essv6825023, essv6853295, essv6816628, essv6847085, essv6954813, essv6699637, essv6797497, essv6898636, essv6961631
SamplesSSM100, SSM027, SSM011, SSM079, SSM087, SSM097, SSM039, SSM088, SSM069, SSM029, SSM026, SSM089, SSM035, SSM031, SSM014, SSM086, SSM072, SSM078, SSM080, SSM076, SSM099, SSM098
Known GenesDOCK7
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)esv2749018
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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