A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15255599



Internal ID6664116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:55209732..55315480hg38UCSC Ensembl
Innerchr15:55209765..55315448hg38UCSC Ensembl
Outerchr15:55209700..55315513hg38UCSC Ensembl
chr15:55501930..55607678hg19UCSC Ensembl
Innerchr15:55501963..55607646hg19UCSC Ensembl
Outerchr15:55501898..55607711hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38105749
hg19105749
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3636554
Supporting Variants
SamplesNA20807
Known GenesRAB27A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15255599
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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