A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv74n27



Internal ID22766803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:27323431..27424596hg38UCSC Ensembl
chr10:27612360..27713525hg19UCSC Ensembl
chr10:27652366..27753531hg18UCSC Ensembl
chr10:27652366..27753531hg17UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38101166
hg19101166
hg18101166
hg17101166
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466843, nsv466844, nsv466842, nsv466841
SamplesHGDP00684, HGDP01177, 1780854079_A, HGDP00733
Known GenesPTCHD3
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)dgv74n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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