A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638254



Internal ID7025040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24642945..24645487hg38UCSC Ensembl
Innerchr16:24642945..24645487hg38UCSC Ensembl
Outerchr16:24642730..24645665hg38UCSC Ensembl
chr16:24654266..24656808hg19UCSC Ensembl
Innerchr16:24654266..24656808hg19UCSC Ensembl
Outerchr16:24654051..24656986hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg382543
hg192543
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15431121, essv15431122
SamplesHG03127, NA19713
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638254
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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