A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv207e55



Internal ID22761157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:166095823..166650417hg38UCSC Ensembl
chr5:165522828..166077422hg19UCSC Ensembl
chr5:165455406..166010000hg18UCSC Ensembl
chr5:165455406..166010000hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38554595
hg19554595
hg18554595
hg17554595
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2752062, esv2752063
SamplesBEC_405, BEC_314
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)dgv207e55
Frequency
Sample Size771
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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