A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6697894



Internal ID9765659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29870390..29999782hg38UCSC Ensembl
Outerchr6:29838167..29967559hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38129393
hg19129393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731775
Supporting Variants
SamplesSSM038
Known GenesHCG4B, HCG9, HLA-A, HLA-H
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)essv6697894
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer