A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978191



Internal ID12634895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21522983..21986230hg38UCSC Ensembl
Innerchr16:21534304..21997551hg19UCSC Ensembl
Innerchr16:21441805..21905052hg18UCSC Ensembl
Innerchr16:21441805..21905052hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38463248
hg19463248
hg18463248
hg17463248
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34544
Supporting Variants
SamplesNA18976
Known GenesIGSF6, LOC100190986, METTL9, OTOA, PDZD9, RRN3P1, UQCRC2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978191
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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