A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15069095



Internal ID2951767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77385422..77392394hg38UCSC Ensembl
chr14:77851765..77858737hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg386973
hg196973
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635003
Supporting Variants
SamplesHG02610
Known GenesSAMD15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15069095
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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