A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3435924



Internal ID15282877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:53258089..53258118hg38UCSC Ensembl
Innerchr13:53258079..53258128hg38UCSC Ensembl
Outerchr13:53258050..53258157hg38UCSC Ensembl
chr13:53832224..53832253hg19UCSC Ensembl
Innerchr13:53832214..53832263hg19UCSC Ensembl
Outerchr13:53832185..53832292hg19UCSC Ensembl
chr13:52730225..52730254hg18UCSC Ensembl
Innerchr13:52730264..52730215hg18UCSC Ensembl
Outerchr13:52730186..52730293hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8960500, essv8960487, essv8960485, essv8960482, essv8960490, essv8960480, essv8960488, essv8960502, essv8960496, essv8960501, essv8960494, essv8960495, essv8960489, essv8960499, essv8960484, essv8960483, essv8960498, essv8960493, essv8960479, essv8960491, essv8960497, essv8960486
SamplesNA18861, NA18592, NA18507, NA11931, NA18942, NA18916, NA18949, NA11993, NA18956, NA18948, NA11894, NA19225, NA18945, NA11881, NA19108, NA19147, NA07037, NA12749, NA18505, NA18511, NA12776, NA18965
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3435924
Frequency
Sample Size185
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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