A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732260



Internal ID10315896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:71381688..71381841hg38UCSC Ensembl
Outerchr6:72091391..72091544hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6830211, essv6826445, essv6671161, essv6687284
SamplesSSM035, SSM031, SSM081, SSM080
Known Genes
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)esv2732260
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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