A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15244701



Internal ID5246517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:49208792..49259459hg38UCSC Ensembl
Innerchr15:49208811..49259441hg38UCSC Ensembl
Outerchr15:49208774..49259478hg38UCSC Ensembl
chr15:49500989..49551656hg19UCSC Ensembl
Innerchr15:49501008..49551638hg19UCSC Ensembl
Outerchr15:49500971..49551675hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg3850668
hg1950668
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3636423
Supporting Variants
SamplesNA12347
Known GenesGALK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15244701
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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