A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv73e55



Internal ID22761023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:18488160..18780535hg38UCSC Ensembl
chr13:19062300..19354675hg19UCSC Ensembl
chr13:17960300..18252675hg18UCSC Ensembl
chr13:17960300..18252675hg17UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg38292376
hg19292376
hg18292376
hg17292376
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34400, esv2751131, esv2751130
SamplesBEC_401, BEC_531, NA12716
Known GenesLINC00417
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)dgv73e55
Frequency
Sample Size771
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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