A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398066



Internal ID15245029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:212958283..212959881hg38UCSC Ensembl
Innerchr2:212958881..212959283hg38UCSC Ensembl
Outerchr2:212957283..212960881hg38UCSC Ensembl
chr2:213823007..213824605hg19UCSC Ensembl
Innerchr2:213823605..213824007hg19UCSC Ensembl
Outerchr2:213822007..213825605hg19UCSC Ensembl
chr2:213531252..213532850hg18UCSC Ensembl
Innerchr2:213532252..213531850hg18UCSC Ensembl
Outerchr2:213530252..213533850hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693482
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398066
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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