A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692079



Internal ID14719244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182643894..182645692hg38UCSC Ensembl
Innerchr1:182644692..182644894hg38UCSC Ensembl
Outerchr1:182642894..182646692hg38UCSC Ensembl
chr1:182613029..182614827hg19UCSC Ensembl
Innerchr1:182613827..182614029hg19UCSC Ensembl
Outerchr1:182612029..182615827hg19UCSC Ensembl
chr1:180879652..180881450hg18UCSC Ensembl
Innerchr1:180880652..180880450hg18UCSC Ensembl
Outerchr1:180878652..180882450hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3381060
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692079
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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