A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7843334



Internal ID14693018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:28837951..28837952hg38UCSC Ensembl
Innerchr13:28837934..28837969hg38UCSC Ensembl
Outerchr13:28837933..28837970hg38UCSC Ensembl
chr13:29412088..29412089hg19UCSC Ensembl
Innerchr13:29412071..29412106hg19UCSC Ensembl
Outerchr13:29412070..29412107hg19UCSC Ensembl
chr13:28310088..28310089hg18UCSC Ensembl
Innerchr13:28310106..28310071hg18UCSC Ensembl
Outerchr13:28310070..28310107hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38295
hg19295
hg18295
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3308811
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7843334
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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