A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731728



Internal ID9966046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:26377986..26415008hg38UCSC Ensembl
Outerchr6:26378214..26415236hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3837023
hg1937023
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6911252, essv6878556
SamplesSSM093, SSM015
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)esv2731728
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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