A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639094



Internal ID7025877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75488863..75490396hg38UCSC Ensembl
Innerchr16:75488913..75490136hg38UCSC Ensembl
Outerchr16:75488788..75490471hg38UCSC Ensembl
chr16:75522761..75524294hg19UCSC Ensembl
Innerchr16:75522811..75524034hg19UCSC Ensembl
Outerchr16:75522686..75524369hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg381534
hg191534
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15523331, essv15523329, essv15523324, essv15523326, essv15523323, essv15523328, essv15523330, essv15523322, essv15523321, essv15523327, essv15523325
SamplesHG01986, HG03479, HG02703, HG03045, HG03575, HG01896, HG02613, HG03063, NA19096, NA19146, HG02284
Known GenesCHST6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639094
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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