A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986063



Internal ID12974310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35349728..35468128hg38UCSC Ensembl
Innerchr16:34584099..34702499hg19UCSC Ensembl
Innerchr16:34441600..34560000hg18UCSC Ensembl
Innerchr16:34441600..34560000hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38118401
hg19118401
hg18118401
hg17118401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751604
Supporting Variants
SamplesBEC_513
Known GenesLOC283914
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986063
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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