A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6890223



Internal ID10284682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32626671..32628695hg38UCSC Ensembl
Outerchr6:32594448..32596472hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg382025
hg192025
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731861, esv2731847
Supporting Variants
SamplesSSM097
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)essv6890223
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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