A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv221e55



Internal ID22761171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7304349..7387813hg38UCSC Ensembl
chr7:7343980..7427444hg19UCSC Ensembl
chr7:7310505..7393969hg18UCSC Ensembl
chr7:7117220..7200684hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3883465
hg1983465
hg1883465
hg1783465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34490, esv34328
SamplesNA19099, NA19100
Known GenesCOL28A1
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)dgv221e55
Frequency
Sample Size771
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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