A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838752



Internal ID18422237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12134394..12217607hg38UCSC Ensembl
Innerchr1:12194451..12277664hg19UCSC Ensembl
Innerchr1:12117038..12200251hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3883214
hg1983214
hg1883214
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584475
Supporting Variants
Samples2RB
Known GenesMIR4632, MIR7846, TNFRSF1B, TNFRSF8
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)essv9838752
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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