A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6974676



Internal ID9736576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:25529174..25530155hg38UCSC Ensembl
Outerchr6:25529402..25530383hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg38982
hg19982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731722
Supporting Variants
SamplesSSM029
Known GenesLRRC16A
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)essv6974676
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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