A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv159e55



Internal ID22761109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:117189423..117687760hg38UCSC Ensembl
chr2:117946999..118445336hg19UCSC Ensembl
chr2:117663469..118161806hg18UCSC Ensembl
chr2:117663229..118161566hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38498338
hg19498338
hg18498338
hg17498338
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751822, esv2751821, esv2751819
SamplesBEC_319, BEC_361, SPC_171
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv159e55
Frequency
Sample Size771
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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