A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7126247



Internal ID10404529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:100526642..100526946hg38UCSC Ensembl
Outerchr14:100992979..100993283hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2856680
Supporting Variants
SamplesHuRef
Known GenesWDR25
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7126247
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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