A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15203598



Internal ID5205414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:30079167..30548344hg38UCSC Ensembl
Innerchr15:30079667..30547844hg38UCSC Ensembl
Outerchr15:30078167..30549344hg38UCSC Ensembl
chr15:30371370..30840547hg19UCSC Ensembl
Innerchr15:30371870..30840047hg19UCSC Ensembl
Outerchr15:30370370..30841547hg19UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38469178
hg19469178
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3636024
Supporting Variants
SamplesNA19102
Known GenesCHRFAM7A, DKFZP434L187, GOLGA8J, GOLGA8T, LOC101059918, ULK4P3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15203598
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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