A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302941



Internal ID15149889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:8559429..8560136hg38UCSC Ensembl
Innerchr3:8559529..8560036hg38UCSC Ensembl
Outerchr3:8559329..8560236hg38UCSC Ensembl
chr3:8601115..8601822hg19UCSC Ensembl
Innerchr3:8601215..8601722hg19UCSC Ensembl
Outerchr3:8601015..8601922hg19UCSC Ensembl
chr3:8576115..8576822hg18UCSC Ensembl
Innerchr3:8576215..8576722hg18UCSC Ensembl
Outerchr3:8576015..8576922hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38708
hg19708
hg18708
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2653e59
Supporting Variantsessv7733386, essv7733500, essv7734180, essv7738531, essv7732147, essv7737884, essv7732789, essv7736540, essv7735289, essv7736944, essv7735550, essv7733994, essv7739077, essv7735362, essv7734861, essv7735599, essv7737415, essv7736050, essv7732629, essv7734392, essv7734274, essv7738741, essv7737355, essv7737594, essv7732754, essv7731874
SamplesNA18502, NA10851, NA19190, NA18526, NA12750, NA12155, NA18489, NA18916, NA19138, NA19137, NA19238, NA19210, NA12003, NA19114, NA18499, NA18856, NA18912, NA19099, NA19225, NA18858, NA19240, NA12749, NA19093, NA18505, NA18965, NA18577
Known GenesLMCD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302941
Frequency
Sample Size185
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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