A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15472408



Internal ID2681492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47224239..47269308hg38UCSC Ensembl
Innerchr16:47224239..47269308hg38UCSC Ensembl
Outerchr16:47223739..47269808hg38UCSC Ensembl
chr16:47258150..47303219hg19UCSC Ensembl
Innerchr16:47258150..47303219hg19UCSC Ensembl
Outerchr16:47257650..47303719hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3845070
hg1945070
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638551
Supporting Variants
SamplesHG02375
Known GenesITFG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15472408
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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