A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3433245



Internal ID15280201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:115288256..115288264hg38UCSC Ensembl
Innerchr7:115288255..115288265hg38UCSC Ensembl
Outerchr7:115288247..115288273hg38UCSC Ensembl
chr7:114928310..114928318hg19UCSC Ensembl
Innerchr7:114928309..114928319hg19UCSC Ensembl
Outerchr7:114928301..114928327hg19UCSC Ensembl
chr7:114715546..114715554hg18UCSC Ensembl
Innerchr7:114715555..114715545hg18UCSC Ensembl
Outerchr7:114715537..114715563hg18UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864761
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3433245
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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