A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989521



Internal ID12973963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:40019545..40117245hg38UCSC Ensembl
Innerchr14:40488749..40586449hg19UCSC Ensembl
Innerchr14:39558500..39656200hg18UCSC Ensembl
Innerchr14:39558500..39656200hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3897701
hg1997701
hg1897701
hg1797701
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)essv6989521
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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