A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6740794



Internal ID9802389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:46295436..46295623hg38UCSC Ensembl
Outerchr10:47666672..47666859hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736351, esv2736163, esv2736363
Supporting Variants
SamplesSSM052
Known GenesANTXRL
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)essv6740794
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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