A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv157e55



Internal ID22761107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:117016269..117179653hg38UCSC Ensembl
chr2:117773845..117937229hg19UCSC Ensembl
chr2:117490315..117653699hg18UCSC Ensembl
chr2:117490075..117653459hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38163385
hg19163385
hg18163385
hg17163385
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751816, esv2751817
SamplesBEC_695, BEC_768
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)dgv157e55
Frequency
Sample Size771
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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