A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv709n27



Internal ID22767438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:83248972..83336910hg38UCSC Ensembl
chr5:82544791..82632729hg19UCSC Ensembl
chr5:82580547..82668485hg18UCSC Ensembl
chr5:82580547..82668485hg17UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg3887939
hg1987939
hg1887939
hg1787939
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv462223, nsv462226, nsv462224, nsv462225
SamplesHGDP00597, HGDP00189, HGDP00689, HGDP00583
Known GenesXRCC4
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)dgv709n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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