A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750853



Internal ID12984405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133266358..133621047hg38UCSC Ensembl
Innerchr10:135079862..135434551hg19UCSC Ensembl
Innerchr10:134929852..135284541hg18UCSC Ensembl
Innerchr10:134968743..135323432hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38354690
hg19354690
hg18354690
hg17354690
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981491, essv6981492, essv6985584, essv6981490
SamplesBEC_280
Known GenesADAM8, CALY, CYP2E1, ECHS1, FUOM, MIR3944, MTG1, PAOX, PRAP1, SCART1, SPRN, SPRNP1, SYCE1, TUBGCP2, ZNF511
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)esv2750853
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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