A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv69n27



Internal ID20132327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:14933172..15028616hg38UCSC Ensembl
chr10:14975171..15070615hg19UCSC Ensembl
chr10:15015177..15110621hg18UCSC Ensembl
chr10:15015177..15110621hg17UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3895445
hg1995445
hg1895445
hg1795445
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466746, nsv466747, nsv466749, nsv466754, nsv466752, nsv466748, nsv466751
SamplesHGDP00475, 1780862378_A, NINDS_174, HGDP00072, 1780862095_A, HGDP00464, HGDP00647
Known GenesDCLRE1C, MEIG1
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)dgv69n27
Frequency
Sample Size1557
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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