A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693524



Internal ID15117346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236592970..236594568hg38UCSC Ensembl
Innerchr2:236593568..236593970hg38UCSC Ensembl
Outerchr2:236591970..236595568hg38UCSC Ensembl
chr2:237501613..237503211hg19UCSC Ensembl
Innerchr2:237502211..237502613hg19UCSC Ensembl
Outerchr2:237500613..237504211hg19UCSC Ensembl
chr2:237166352..237167950hg18UCSC Ensembl
Innerchr2:237167352..237166950hg18UCSC Ensembl
Outerchr2:237165352..237168950hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3414723
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693524
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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