A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637555



Internal ID6677659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:199455..200150hg38UCSC Ensembl
Innerchr16:199505..200100hg38UCSC Ensembl
Outerchr16:199355..200250hg38UCSC Ensembl
chr16:249454..250149hg19UCSC Ensembl
Innerchr16:249504..250099hg19UCSC Ensembl
Outerchr16:249354..250249hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38696
hg19696
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15355148, essv15355145, essv15355143, essv15355144, essv15355149, essv15355147, essv15355146
SamplesHG03684, HG02727, HG03928, HG02658, NA21141, NA20904, HG03950
Known GenesLUC7L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637555
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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