A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv195e55



Internal ID22761145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:659490..823705hg38UCSC Ensembl
chr5:659605..823820hg19UCSC Ensembl
chr5:712605..876820hg18UCSC Ensembl
chr5:712605..876820hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38164216
hg19164216
hg18164216
hg17164216
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2752075, esv2752077, esv34972, esv34644, esv2752079, esv34475
SamplesNA10857, BEC_408, NA18995, BEC_329, BEC_310, NA18522
Known GenesTPPP, ZDHHC11
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)dgv195e55
Frequency
Sample Size771
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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