A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2713919



Internal ID10297555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:81513866..81514435hg38UCSC Ensembl
Outerchr1:81979551..81980120hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38570
hg19570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6972459, essv6933359, essv6847112, essv6929128, essv6816658, essv6864029
SamplesSSM021, SSM029, SSM089, SSM086, SSM020, SSM078
Known Genes
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)esv2713919
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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