A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307827



Internal ID15154775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:113149555..113149556hg38UCSC Ensembl
Innerchr7:113149529..113149582hg38UCSC Ensembl
Outerchr7:113149528..113149583hg38UCSC Ensembl
chr7:112789610..112789611hg19UCSC Ensembl
Innerchr7:112789584..112789637hg19UCSC Ensembl
Outerchr7:112789583..112789638hg19UCSC Ensembl
chr7:112576846..112576847hg18UCSC Ensembl
Innerchr7:112576873..112576820hg18UCSC Ensembl
Outerchr7:112576819..112576874hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7755177, essv7759656, essv7759502, essv7749783, essv7747188, essv7740498, essv7754597, essv7752448, essv7750404, essv7741661, essv7747731, essv7753498, essv7755914, essv7742616, essv7755424, essv7754364
SamplesNA18502, NA11829, NA18861, NA10851, NA18504, NA12761, NA19114, NA19099, NA19257, NA19225, NA18523, NA19108, NA07051, NA19093, NA19102, NA12154
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307827
Frequency
Sample Size185
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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