A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6927840



Internal ID9641026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31224596..31530805hg38UCSC Ensembl
Outerchr6:31192373..31498582hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38306210
hg19306210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731812
Supporting Variants
SamplesSSM003
Known GenesATP6V1G2-DDX39B, DDX39B, HCG26, HCP5, HLA-B, HLA-C, MCCD1, MICA, MICB, MIR6891
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)essv6927840
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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