A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9837914



Internal ID18423191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46452357..46878283hg38UCSC Ensembl
Innerchr10:46674180..47097403hg19UCSC Ensembl
Innerchr10:46094186..46517409hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38425927
hg19423224
hg18423224
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584617
Supporting Variants
SamplesOA091
Known GenesBMS1P1, BMS1P5, FAM35BP, FRMPD2P1, GLUD1P7, GPRIN2, LINC00842, LOC100996758, NPY4R, SYT15
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)essv9837914
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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