A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv704n27



Internal ID22767433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:52071620..52136835hg38UCSC Ensembl
chr5:51367454..51432669hg19UCSC Ensembl
chr5:51403211..51468426hg18UCSC Ensembl
chr5:51403211..51468426hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3865216
hg1965216
hg1865216
hg1765216
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv462185, nsv462186, nsv462181
SamplesHGDP00210, HGDP00454, NINDS_178
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)dgv704n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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