A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15241888



Internal ID5243704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:47191130..47195580hg38UCSC Ensembl
Innerchr15:47191130..47195580hg38UCSC Ensembl
Outerchr15:47190994..47195714hg38UCSC Ensembl
chr15:47483327..47487777hg19UCSC Ensembl
Innerchr15:47483327..47487777hg19UCSC Ensembl
Outerchr15:47483191..47487911hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg384451
hg194451
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3636383
Supporting Variants
SamplesHG01440
Known GenesSEMA6D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15241888
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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