A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275592



Internal ID348498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:124931375..124931585hg38UCSC Ensembl
Outerchr6:124930896..124932386hg38UCSC Ensembl
Innerchr6:125252521..125252731hg19UCSC Ensembl
Outerchr6:125252042..125253532hg19UCSC Ensembl
Innerchr6:125294220..125294430hg18UCSC Ensembl
Outerchr6:125293741..125295231hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg381491
hg191491
hg181491
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585524, essv2586008
Samples
Known GenesSTL
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275592
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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