A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988807



Internal ID12977022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35207428..35436528hg38UCSC Ensembl
Innerchr16:34441799..34670899hg19UCSC Ensembl
Innerchr16:34299300..34528400hg18UCSC Ensembl
Innerchr16:34299300..34528400hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38229101
hg19229101
hg18229101
hg17229101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751574
Supporting Variants
SamplesBEC_708
Known GenesLOC283914
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988807
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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