A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3423947



Internal ID15270904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:8559449..8560120hg38UCSC Ensembl
Innerchr3:8559467..8560099hg38UCSC Ensembl
Outerchr3:8559428..8560138hg38UCSC Ensembl
chr3:8601135..8601806hg19UCSC Ensembl
Innerchr3:8601153..8601785hg19UCSC Ensembl
Outerchr3:8601114..8601824hg19UCSC Ensembl
chr3:8576135..8576806hg18UCSC Ensembl
Innerchr3:8576153..8576785hg18UCSC Ensembl
Outerchr3:8576114..8576824hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38672
hg19672
hg18672
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8671144, essv8671145
SamplesNA19238, NA19240
Known GenesLMCD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3423947
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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