A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6681249



Internal ID9750736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:3215785..3216254hg38UCSC Ensembl
Outerchr10:3257977..3258446hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730995, esv2731306
Supporting Variants
SamplesSSM033
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)essv6681249
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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