A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv610n27



Internal ID22767339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:85604283..85645837hg38UCSC Ensembl
chr3:85653433..85694987hg19UCSC Ensembl
chr3:85736123..85777677hg18UCSC Ensembl
chr3:85736123..85777677hg17UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg3841555
hg1941555
hg1841555
hg1741555
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460750, nsv460752
SamplesHGDP01238, HGDP01213
Known GenesCADM2
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)dgv610n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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