A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv698n27



Internal ID20132956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32101294..32169441hg38UCSC Ensembl
chr5:32101400..32169547hg19UCSC Ensembl
chr5:32137157..32205304hg18UCSC Ensembl
chr5:32137157..32205304hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3868148
hg1968148
hg1868148
hg1768148
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv462090, nsv462094, nsv462105, nsv462102, nsv462107, nsv462109, nsv462098, nsv462091, nsv462110, nsv462103, nsv462089, nsv462093, nsv462104, nsv462101, nsv462100, nsv462097, nsv462108, nsv462111, nsv462092, nsv462096, nsv462099
SamplesHGDP01401, HGDP00025, HGDP00884, HGDP01246, HGDP01156, HGDP00001, HGDP01212, HGDP01187, HGDP00351, HGDP01184, HGDP00755, HGDP00750, HGDP01247, HGDP00519, HGDP00029, HGDP01340, HGDP01191, HGDP01349, HGDP01147, HGDP01356, HGDP00597
Known GenesGOLPH3, PDZD2
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)dgv698n27
Frequency
Sample Size1557
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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