A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981804



Internal ID12973950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:39970909..40113428hg38UCSC Ensembl
Innerchr14:40440113..40582632hg19UCSC Ensembl
Innerchr14:39509864..39652383hg18UCSC Ensembl
Innerchr14:39509864..39652383hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38142520
hg19142520
hg18142520
hg17142520
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751274
Supporting Variants
SamplesBEC_48
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981804
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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