A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751552



Internal ID12638418
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 loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983236, essv6989761, essv6983235
SamplesBEC_558
Known GenesIGSF6, METTL9, OTOA
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751552
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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