A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6751544



Internal ID9812775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29791503..29942009hg38UCSC Ensembl
Outerchr6:29759280..29909786hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38150507
hg19150507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731769, esv2731767, esv2731772
Supporting Variants
SamplesSSM057
Known GenesHCG4, HCG4B, HLA-G, HLA-H, 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)essv6751544
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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