A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15243211



Internal ID6048814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:47372163..47395506hg38UCSC Ensembl
Innerchr15:47372663..47395006hg38UCSC Ensembl
Outerchr15:47371163..47396506hg38UCSC Ensembl
chr15:47664360..47687703hg19UCSC Ensembl
Innerchr15:47664860..47687203hg19UCSC Ensembl
Outerchr15:47663360..47688703hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3823344
hg1923344
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3636389
Supporting Variants
SamplesNA19446
Known GenesSEMA6D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15243211
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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