A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692321



Internal ID15067125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37667093..37669291hg38UCSC Ensembl
Innerchr1:37668093..37668291hg38UCSC Ensembl
Outerchr1:37666093..37670291hg38UCSC Ensembl
chr1:38132765..38134963hg19UCSC Ensembl
Innerchr1:38133765..38133963hg19UCSC Ensembl
Outerchr1:38131765..38135963hg19UCSC Ensembl
chr1:37905352..37907550hg18UCSC Ensembl
Innerchr1:37906352..37906550hg18UCSC Ensembl
Outerchr1:37904352..37908550hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3450650
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692321
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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