A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15378624



Internal ID2288346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14035900..14047125hg38UCSC Ensembl
Innerchr16:14036050..14046975hg38UCSC Ensembl
Outerchr16:14035750..14047275hg38UCSC Ensembl
chr16:14129757..14140982hg19UCSC Ensembl
Innerchr16:14129907..14140832hg19UCSC Ensembl
Outerchr16:14129607..14141132hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3811226
hg1911226
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637994
Supporting Variants
SamplesHG02048
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15378624
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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