A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3382362



Internal ID15229333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:38919868..38919912hg38UCSC Ensembl
Innerchr13:38919868..38919909hg38UCSC Ensembl
Outerchr13:38919824..38919953hg38UCSC Ensembl
chr13:39494005..39494049hg19UCSC Ensembl
Innerchr13:39494005..39494046hg19UCSC Ensembl
Outerchr13:39493961..39494090hg19UCSC Ensembl
chr13:38392005..38392049hg18UCSC Ensembl
Innerchr13:38392046..38392005hg18UCSC Ensembl
Outerchr13:38391961..38392090hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38260
hg19260
hg18260
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8672605, essv8672606
SamplesNA19238, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3382362
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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