A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv637n27



Internal ID20132895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3403438..3449382hg38UCSC Ensembl
chr4:3405165..3451109hg19UCSC Ensembl
chr4:3374963..3420907hg18UCSC Ensembl
chr4:3442134..3488078hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3845945
hg1945945
hg1845945
hg1745945
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv461167, nsv461168, nsv461166
SamplesHGDP01191, HGDP00975, HGDP00330
Known GenesHGFAC, RGS12
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)dgv637n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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