A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989520



Internal ID12973945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:39968445..40115945hg38UCSC Ensembl
Innerchr14:40437649..40585149hg19UCSC Ensembl
Innerchr14:39507400..39654900hg18UCSC Ensembl
Innerchr14:39507400..39654900hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38147501
hg19147501
hg18147501
hg17147501
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989520
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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