A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751272



Internal ID12984824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:39747676..40444026hg38UCSC Ensembl
Innerchr14:40216880..40913230hg19UCSC Ensembl
Innerchr14:39286631..39982980hg18UCSC Ensembl
Innerchr14:39286631..39982980hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38696351
hg19696351
hg18696350
hg17696350
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989953, essv6984408, essv6989427, essv6984407
SamplesBEC_704
Known Genes
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)esv2751272
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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