A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987254



Internal ID12984005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:46249054..46756688hg38UCSC Ensembl
Innerchr14:46718257..47225891hg19UCSC Ensembl
Innerchr14:45788007..46295641hg18UCSC Ensembl
Innerchr14:45788007..46295641hg17UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38507635
hg19507635
hg18507635
hg17507635
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751278
Supporting Variants
SamplesSPC_43
Known GenesLINC00871, RPL10L
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987254
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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