A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990137



Internal ID12983977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:39943591..40117236hg38UCSC Ensembl
Innerchr14:40412795..40586440hg19UCSC Ensembl
Innerchr14:39482546..39656191hg18UCSC Ensembl
Innerchr14:39482546..39656191hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38173646
hg19173646
hg18173646
hg17173646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751273
Supporting Variants
SamplesSPC_4
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990137
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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