A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv70n27



Internal ID22766799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:20162679..20207341hg38UCSC Ensembl
chr10:20451608..20496270hg19UCSC Ensembl
chr10:20491614..20536276hg18UCSC Ensembl
chr10:20491614..20536276hg17UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg3844663
hg1944663
hg1844663
hg1744663
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466768, nsv466767
SamplesNINDS_183, HGDP00671
Known GenesPLXDC2
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)dgv70n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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