A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv495n27



Internal ID20132753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233333701..233379402hg38UCSC Ensembl
chr2:234242347..234288048hg19UCSC Ensembl
chr2:233907086..233952787hg18UCSC Ensembl
chr2:234024347..234070048hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3845702
hg1945702
hg1845702
hg1745702
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460136, nsv460135
Samples1780862415_A, 1780862093_A
Known GenesDGKD, SAG
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)dgv495n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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