A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6927851



Internal ID9641027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31408569..31503502hg38UCSC Ensembl
Outerchr6:31376346..31471279hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3894934
hg1994934
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731812, esv2731822
Supporting Variants
SamplesSSM003
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)essv6927851
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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