A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv76n27



Internal ID20132334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:34731710..34865418hg38UCSC Ensembl
chr10:35020638..35154346hg19UCSC Ensembl
chr10:35060644..35194352hg18UCSC Ensembl
chr10:35060644..35194352hg17UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg38133709
hg19133709
hg18133709
hg17133709
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466866, nsv466863
SamplesHGDP00956, HGDP00886
Known GenesPARD3, PARD3-AS1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)dgv76n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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