A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15046046



Internal ID5047862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:66577801..66681072hg38UCSC Ensembl
chr14:67044519..67147790hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38103272
hg19103272
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634788
Supporting Variants
SamplesHG03717
Known GenesGPHN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15046046
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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