A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv609n27



Internal ID22767338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:75339010..75519068hg38UCSC Ensembl
chr3:75388161..75568219hg19UCSC Ensembl
chr3:75470851..75650909hg18UCSC Ensembl
chr3:75470851..75650909hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38180059
hg19180059
hg18180059
hg17180059
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460709, nsv460712, nsv460710, nsv460707, nsv460708, nsv460705, nsv460711
Samples1780854573_A, HGDP00902, 1798860443_A, HGDP01362, NINDS_36, 1798860565_A, 1780854483_A
Known GenesFAM86DP
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)dgv609n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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