A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv510n27



Internal ID22767239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:37376872..37447464hg38UCSC Ensembl
chr20:36005275..36075866hg19UCSC Ensembl
chr20:35438689..35509280hg18UCSC Ensembl
chr20:35438689..35509280hg17UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3870593
hg1970592
hg1870592
hg1770592
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458969, nsv458971, nsv458970
SamplesNINDS_51, HGDP00864, NINDS_136
Known GenesSRC
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)dgv510n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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