A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982311



Internal ID12973553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35244934..35522700hg38UCSC Ensembl
Innerchr16:34479305..34757071hg19UCSC Ensembl
Innerchr16:34336806..34614572hg18UCSC Ensembl
Innerchr16:34336806..34614572hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38277767
hg19277767
hg18277767
hg17277767
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751606
Supporting Variants
SamplesBEC_415
Known GenesLOC100130700, LOC146481, LOC283914
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982311
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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