A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6911252



Internal ID9676334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:26377986..26414972hg38UCSC Ensembl
Outerchr6:26378214..26415200hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3836987
hg1936987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731728
Supporting Variants
SamplesSSM015
Known GenesBTN2A2, BTN3A1, BTN3A2
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)essv6911252
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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