A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981474



Internal ID12625499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:22982302..24393377hg38UCSC Ensembl
Innerchr13:23556441..24967515hg19UCSC Ensembl
Innerchr13:22454441..23865515hg18UCSC Ensembl
Innerchr13:22454441..23865515hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg381411076
hg191411075
hg181411075
hg171411075
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751136
Supporting Variants
SamplesBEC_24
Known GenesANKRD20A19P, C1QTNF9, C1QTNF9B, C1QTNF9B-AS1, LINC00327, MIPEP, MIR2276, SACS, SACS-AS1, SGCG, SPATA13, SPATA13-AS1, TNFRSF19
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981474
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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