A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6938932



Internal ID9700470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29833961..30012596hg38UCSC Ensembl
Outerchr6:29801738..29980373hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38178636
hg19178636
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731769, esv2731775
Supporting Variants
SamplesSSM022
Known GenesHCG4B, HCG8, HCG9, HLA-A, HLA-H, HLA-J, ZNRD1-AS1
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)essv6938932
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