A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv588n27



Internal ID20132846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4019253..4218633hg38UCSC Ensembl
chr3:4060937..4260317hg19UCSC Ensembl
chr3:4035937..4235317hg18UCSC Ensembl
chr3:4035937..4235317hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38199381
hg19199381
hg18199381
hg17199381
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460336, nsv460335
SamplesHGDP00133, HGDP01179
Known Genes
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)dgv588n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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