A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15312199



Internal ID5314015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:82942994..83064493hg38UCSC Ensembl
chr15:83611746..83733245hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38121500
hg19121500
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637065
Supporting Variants
SamplesHG01613
Known GenesBTBD1, C15orf40, FAM103A1, HOMER2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15312199
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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