A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7730845



Internal ID15013812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:8559425..8560130hg38UCSC Ensembl
Innerchr3:8559525..8560030hg38UCSC Ensembl
Outerchr3:8559325..8560230hg38UCSC Ensembl
chr3:8601111..8601816hg19UCSC Ensembl
Innerchr3:8601211..8601716hg19UCSC Ensembl
Outerchr3:8601011..8601916hg19UCSC Ensembl
chr3:8576111..8576816hg18UCSC Ensembl
Innerchr3:8576211..8576716hg18UCSC Ensembl
Outerchr3:8576011..8576916hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38706
hg19706
hg18706
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302694
Supporting Variants
SamplesNA19238
Known GenesLMCD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7730845
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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