A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5e55



Internal ID22760955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:102190128..102384423hg38UCSC Ensembl
chr1:102655684..102849979hg19UCSC Ensembl
chr1:102428272..102622567hg18UCSC Ensembl
chr1:102367705..102562000hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38194296
hg19194296
hg18194296
hg17194296
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2750796, esv2750795
SamplesSPC_178, BEC_705
Known GenesMIR548AI
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)dgv5e55
Frequency
Sample Size771
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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