A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752126



Internal ID12638992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:52748261..52824743hg38UCSC Ensembl
Innerchr6:52613059..52689541hg19UCSC Ensembl
Innerchr6:52721018..52797500hg18UCSC Ensembl
Innerchr6:52721018..52797500hg17UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3876483
hg1976483
hg1876483
hg1776483
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981842, essv6981843, essv6985678
SamplesBEC_492
Known GenesGSTA1, GSTA2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752126
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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