A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731858



Internal ID10315494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32624553..32624805hg38UCSC Ensembl
Outerchr6:32592330..32592582hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6907559, essv6826395, essv6818202, essv6963713, essv6802566, essv6833782, essv6786392, essv6884229, essv6860855
SamplesSSM027, SSM073, SSM088, SSM069, SSM014, SSM082, SSM078, SSM080, SSM095
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)esv2731858
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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