A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3399075



Internal ID15246038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:21584954..21584972hg38UCSC Ensembl
Innerchr7:21584956..21584968hg38UCSC Ensembl
Outerchr7:21584938..21584988hg38UCSC Ensembl
chr7:21624572..21624590hg19UCSC Ensembl
Innerchr7:21624574..21624586hg19UCSC Ensembl
Outerchr7:21624556..21624606hg19UCSC Ensembl
chr7:21591097..21591115hg18UCSC Ensembl
Innerchr7:21591111..21591099hg18UCSC Ensembl
Outerchr7:21591081..21591131hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38256
hg19256
hg18256
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8934912, essv8934908, essv8934909, essv8934906, essv8934911, essv8934910, essv8934907
SamplesNA18510, NA18520, NA19114, NA19257, NA19093, NA18511, NA18522
Known GenesDNAH11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3399075
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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