A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8672605



Internal ID15030895
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 StatusS
Merged Variantsesv3382362
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8672605
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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