A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981190



Internal ID12972961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35029228..35468128hg38UCSC Ensembl
Innerchr16:34263599..34702499hg19UCSC Ensembl
Innerchr16:34121100..34560000hg18UCSC Ensembl
Innerchr16:34121100..34560000hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38438901
hg19438901
hg18438901
hg17438901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751557
Supporting Variants
SamplesBEC_362
Known GenesLOC283914, UBE2MP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981190
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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