A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722628



Internal ID9956928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:214622693..214622839hg38UCSC Ensembl
Outerchr1:214796036..214796182hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6902695, essv6669218, essv6853482, essv6955004
SamplesSSM013, SSM031, SSM087, SSM026
Known GenesCENPF
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)esv2722628
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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