A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9926620



Internal ID5620523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47886899..47887578hg38UCSC Ensembl
Innerchr1:47886899..47887578hg38UCSC Ensembl
Outerchr1:47886607..47887877hg38UCSC Ensembl
chr1:48352571..48353250hg19UCSC Ensembl
Innerchr1:48352571..48353250hg19UCSC Ensembl
Outerchr1:48352279..48353549hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38680
hg19680
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585961
Supporting Variants
SamplesNA19054
Known GenesTRABD2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9926620
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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