A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6676478



Internal ID9747144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29748781..29975729hg38UCSC Ensembl
Outerchr6:29716558..29943506hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38226949
hg19226949
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731769, esv2731767
Supporting Variants
SamplesSSM032
Known GenesHCG4, HCG4B, HCG9, HLA-A, HLA-F-AS1, HLA-G, HLA-H, IFITM4P, LOC554223
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)essv6676478
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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