A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6818167



Internal ID9874328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:30451177..30463766hg38UCSC Ensembl
Outerchr6:30418954..30431543hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3812590
hg1912590
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731791, esv2731792
Supporting Variants
SamplesSSM078
Known Genes
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)essv6818167
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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