A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3351130



Internal ID15198111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:131586653..131587951hg38UCSC Ensembl
Innerchr7:131586951..131587653hg38UCSC Ensembl
Outerchr7:131585653..131588951hg38UCSC Ensembl
chr7:131271412..131272710hg19UCSC Ensembl
Innerchr7:131271710..131272412hg19UCSC Ensembl
Outerchr7:131270412..131273710hg19UCSC Ensembl
chr7:130921952..130923250hg18UCSC Ensembl
Innerchr7:130922952..130922250hg18UCSC Ensembl
Outerchr7:130920952..130924250hg18UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3944e59
Supporting Variantsessv8695510
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3351130
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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