A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv640n27



Internal ID11601855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6254762..6301627hg38UCSC Ensembl
chr4:6256489..6303354hg19UCSC Ensembl
chr4:6307390..6354255hg18UCSC Ensembl
chr4:6374561..6421426hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3846866
hg1946866
hg1846866
hg1746866
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv461186, nsv461187
SamplesHGDP01190, HGDP00817
Known GenesWFS1
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)dgv640n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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