A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6884219



Internal ID10279103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32521552..32583427hg38UCSC Ensembl
Outerchr6:32489329..32551204hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3861876
hg1961876
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731844, esv2731846, esv2731839, esv2731842, esv2731835, esv2731837
Supporting Variants
SamplesSSM095
Known GenesHLA-DRB1, HLA-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)essv6884219
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer