A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6970479



Internal ID9728050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:71296658..71297061hg38UCSC Ensembl
Outerchr10:73056415..73056818hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38404
hg19404
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738251
Supporting Variants
SamplesSSM028
Known GenesUNC5B
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)essv6970479
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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