A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6728398



Internal ID9651217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31369235..31513863hg38UCSC Ensembl
Outerchr6:31337012..31481640hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38144629
hg19144629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731812
Supporting Variants
SamplesSSM007
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)essv6728398
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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