A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6754482



Internal ID9817001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31413769..31508709hg38UCSC Ensembl
Outerchr6:31381546..31476486hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3894941
hg1994941
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731812, esv2731822
Supporting Variants
SamplesSSM058
Known GenesHCG26, HCP5, MICA, MICB
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)essv6754482
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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