A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv119e55



Internal ID22761069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:35215329..35905114hg38UCSC Ensembl
chr16:34449700..35139485hg19UCSC Ensembl
chr16:34307201..34996986hg18UCSC Ensembl
chr16:34307201..34996986hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38689786
hg19689786
hg18689786
hg17689786
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34862, esv34629
SamplesNA12004, NA12239
Known GenesFLJ26245, LOC100130700, LOC146481, LOC283914
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)dgv119e55
Frequency
Sample Size771
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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