A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693534



Internal ID14726637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237516870..237518768hg38UCSC Ensembl
Innerchr2:237517768..237517870hg38UCSC Ensembl
Outerchr2:237515870..237519768hg38UCSC Ensembl
chr2:238425513..238427411hg19UCSC Ensembl
Innerchr2:238426411..238426513hg19UCSC Ensembl
Outerchr2:238424513..238428411hg19UCSC Ensembl
chr2:238090252..238092150hg18UCSC Ensembl
Innerchr2:238091252..238091150hg18UCSC Ensembl
Outerchr2:238089252..238093150hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3434023
Supporting Variants
SamplesNA19239
Known GenesMLPH
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693534
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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