A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989427



Internal ID12976948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:39769504..40437260hg38UCSC Ensembl
Innerchr14:40238708..40906464hg19UCSC Ensembl
Innerchr14:39308459..39976214hg18UCSC Ensembl
Innerchr14:39308459..39976214hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38667757
hg19667757
hg18667756
hg17667756
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751272
Supporting Variants
SamplesBEC_704
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989427
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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