A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9837865



Internal ID18769385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143521875..143870966hg38UCSC Ensembl
Innerchr7:143218968..143568059hg19UCSC Ensembl
Innerchr7:142929090..143198992hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38349092
hg19349092
hg18269903
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584556
Supporting Variants
SamplesOA001
Known GenesCTAGE15, CTAGE6, EPHA1-AS1, FAM115A, FAM115C, LOC154761
MethodSNP array
AnalysisWe applied stringent filtering criteria such that CNV had to be a minimum of 1 kb and span 5 consecutive probes, and be detected by at least 2 out of the 3 algorithms. In addition we excluded CNVs that were on the X and Y-chromosomes, or approximately 300 kb adjacent to the centromeres and telomeres.
PlatformAffymetrix Genome-Wide Human SNP Array 6.0
Comments
ReferenceMokhtar_et_al_2014
Pubmed ID24956385
Accession Number(s)essv9837865
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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