A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3382021



Internal ID14882297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152237834..152249932hg38UCSC Ensembl
Innerchr7:152238834..152248932hg38UCSC Ensembl
Outerchr7:152236834..152250932hg38UCSC Ensembl
chr7:151934919..151947017hg19UCSC Ensembl
Innerchr7:151935919..151946017hg19UCSC Ensembl
Outerchr7:151933919..151948017hg19UCSC Ensembl
chr7:151565852..151577950hg18UCSC Ensembl
Innerchr7:151566852..151576950hg18UCSC Ensembl
Outerchr7:151564852..151578950hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3812099
hg1912099
hg1812099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695636
SamplesNA19238
Known GenesKMT2C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3382021
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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