A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001290



Internal ID7066417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:91221240..91231433hg38UCSC Ensembl
Outerchr14:91687584..91697777hg19UCSC Ensembl
Outerchr14:90757337..90767530hg18UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg3810194
hg1910194
hg1810194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565341
SamplesHuRef
Known GenesC14orf159
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001290
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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