A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv194e55



Internal ID20126673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:167885235..168125021hg38UCSC Ensembl
chr4:168806386..169046172hg19UCSC Ensembl
chr4:169042961..169282747hg18UCSC Ensembl
chr4:169181116..169420902hg17UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38239787
hg19239787
hg18239787
hg17239787
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2752039, esv2752040, esv35159
SamplesBEC_101, BEC_452, NA10857
Known GenesANXA10
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv194e55
Frequency
Sample Size771
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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