A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6794776



Internal ID9657682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31267217..31352258hg38UCSC Ensembl
Outerchr6:31234994..31320035hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3885042
hg1985042
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731820, esv2731814, esv2731815, esv2731812, esv2731817
Supporting Variants
SamplesSSM009
Known GenesHLA-C
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)essv6794776
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