A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6698552



Internal ID9764095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:77041072..77041477hg38UCSC Ensembl
Outerchr10:78800830..78801235hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38406
hg19406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738474
Supporting Variants
SamplesSSM038
Known GenesKCNMA1
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)essv6698552
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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