A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv606n27



Internal ID22767335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:65190441..65230129hg38UCSC Ensembl
chr3:65176116..65215804hg19UCSC Ensembl
chr3:65151156..65190844hg18UCSC Ensembl
chr3:65151156..65190844hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3839689
hg1939689
hg1839689
hg1739689
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460595, nsv460585, nsv460586, nsv460590, nsv460592, nsv460591, nsv460589, nsv460596, nsv460587, nsv460593, nsv460584, nsv460588
Samples1782681144_A, NINDS_70, 1780862388_A, HGDP00533, 1780854096_A, 1780854340_A, NINDS_83, 1798860280_A, HGDP01310, 1780854197_A, 1780854063_A, 1780854362_A
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)dgv606n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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