A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8673894



Internal ID13713813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211792348..211792393hg38UCSC Ensembl
Innerchr1:211792363..211792378hg38UCSC Ensembl
Outerchr1:211792318..211792423hg38UCSC Ensembl
chr1:211965690..211965735hg19UCSC Ensembl
Innerchr1:211965705..211965720hg19UCSC Ensembl
Outerchr1:211965660..211965765hg19UCSC Ensembl
chr1:210032313..210032358hg18UCSC Ensembl
Innerchr1:210032343..210032328hg18UCSC Ensembl
Outerchr1:210032283..210032388hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3891
hg1991
hg1891
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3440536
Supporting Variants
SamplesNA12891
Known GenesLPGAT1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8673894
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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