A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982802



Internal ID12975583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35203218..35499505hg38UCSC Ensembl
Innerchr16:34437589..34733876hg19UCSC Ensembl
Innerchr16:34295090..34591377hg18UCSC Ensembl
Innerchr16:34295090..34591377hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38296288
hg19296288
hg18296288
hg17296288
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751561
Supporting Variants
SamplesBEC_596
Known GenesLOC146481, LOC283914
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982802
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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