A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8934906



Internal ID15119396
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 StatusS
Merged Variantsesv3399075
Supporting Variants
SamplesNA19257
Known GenesDNAH11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8934906
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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