A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15052663



Internal ID1819847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70239299..70243170hg38UCSC Ensembl
chr14:70706016..70709887hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg383872
hg193872
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634855
Supporting Variants
SamplesHG01695
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15052663
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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