A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988497



Internal ID12626607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21522983..21728953hg38UCSC Ensembl
Innerchr16:21534304..21740274hg19UCSC Ensembl
Innerchr16:21441805..21647775hg18UCSC Ensembl
Innerchr16:21441805..21647775hg17UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38205971
hg19205971
hg18205971
hg17205971
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751551
Supporting Variants
SamplesBEC_397
Known GenesIGSF6, METTL9, OTOA
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988497
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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