A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3636383



Internal ID6676490
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15241888, essv15241887
SamplesHG01440, HG01390
Known GenesSEMA6D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3636383
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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