A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6962217



Internal ID9989801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:149177736..149178111hg38UCSC Ensembl
Outerchr6:149498872..149499247hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732855
Supporting Variants
SamplesSSM004
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)essv6962217
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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