A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751287



Internal ID12984839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:83828143..83871903hg38UCSC Ensembl
Innerchr14:84294487..84338247hg19UCSC Ensembl
Innerchr14:83364240..83408000hg18UCSC Ensembl
Innerchr14:83364240..83408000hg17UCSC Ensembl
Cytoband14q31.2
Allele length
AssemblyAllele length
hg3843761
hg1943761
hg1843761
hg1743761
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987661, essv6984723
SamplesSPC_169
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751287
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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