A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731782



Internal ID10315418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:30262392..30263402hg38UCSC Ensembl
Outerchr6:30230169..30231179hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg381011
hg191011
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6736934, essv6849061, essv6974708, essv6893489
SamplesSSM050, SSM029, SSM086, SSM098
Known GenesHCG17, HLA-L
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)esv2731782
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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