A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302694



Internal ID15149642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:8559424..8560130hg38UCSC Ensembl
Innerchr3:8559524..8560030hg38UCSC Ensembl
Outerchr3:8559324..8560230hg38UCSC Ensembl
chr3:8601110..8601816hg19UCSC Ensembl
Innerchr3:8601210..8601716hg19UCSC Ensembl
Outerchr3:8601010..8601916hg19UCSC Ensembl
chr3:8576110..8576816hg18UCSC Ensembl
Innerchr3:8576210..8576716hg18UCSC Ensembl
Outerchr3:8576010..8576916hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38707
hg19707
hg18707
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2653e59
Supporting Variantsessv7731571, essv7730845
SamplesNA19238, NA19240
Known GenesLMCD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302694
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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