A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751278



Internal ID12638144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:46249047..46756688hg38UCSC Ensembl
Innerchr14:46718250..47225891hg19UCSC Ensembl
Innerchr14:45788000..46295641hg18UCSC Ensembl
Innerchr14:45788000..46295641hg17UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38507642
hg19507642
hg18507642
hg17507642
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985771, essv6985770, essv6985772, essv6985773, essv6987254
SamplesSPC_43
Known GenesLINC00871, RPL10L
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)esv2751278
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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