A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34544



Internal ID12643895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21522978..21986230hg38UCSC Ensembl
Innerchr16:21534299..21997551hg19UCSC Ensembl
Innerchr16:21441800..21905052hg18UCSC Ensembl
Innerchr16:21441800..21905052hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38463253
hg19463253
hg18463253
hg17463253
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978191, essv6990206, essv6978192
SamplesNA18976
Known GenesIGSF6, LOC100190986, METTL9, OTOA, PDZD9, RRN3P1, UQCRC2
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)esv34544
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer