A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732648



Internal ID10316284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:122354552..122355359hg38UCSC Ensembl
Outerchr6:122675697..122676504hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38808
hg19808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6740051, essv6930527, essv6896837, essv6855356, essv6694240, essv6770900
SamplesSSM065, SSM087, SSM020, SSM037, SSM099, SSM052
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)esv2732648
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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