A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714784



Internal ID9949069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:91669115..91669604hg38UCSC Ensembl
Outerchr1:92134672..92135161hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38490
hg19490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6941858, essv6725921, essv6733537, essv6753555
SamplesSSM046, SSM023, SSM058, SSM049
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)esv2714784
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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