A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6734330



Internal ID10143842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32482667..32569678hg38UCSC Ensembl
Outerchr6:32450444..32537455hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3887012
hg1987012
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731844, esv2731846, esv2731839, esv2731841, esv2731842, esv2731843, esv2731835, esv2731837, esv2731845, esv2731836, esv2731834, esv2731838
Supporting Variants
SamplesSSM049
Known GenesHLA-DRB5, HLA-DRB6
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)essv6734330
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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