A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15254827



Internal ID4440544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:54172335..54217275hg38UCSC Ensembl
Innerchr15:54172378..54217233hg38UCSC Ensembl
Outerchr15:54172293..54217318hg38UCSC Ensembl
chr15:54464532..54509472hg19UCSC Ensembl
Innerchr15:54464575..54509430hg19UCSC Ensembl
Outerchr15:54464490..54509515hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg3844941
hg1944941
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3636532
Supporting Variants
SamplesHG03949
Known GenesUNC13C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15254827
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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