A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688921



Internal ID15048439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30072215..30073413hg38UCSC Ensembl
Innerchr13:30072413..30073215hg38UCSC Ensembl
Outerchr13:30071215..30074413hg38UCSC Ensembl
chr13:30646352..30647550hg19UCSC Ensembl
Innerchr13:30646550..30647352hg19UCSC Ensembl
Outerchr13:30645352..30648550hg19UCSC Ensembl
chr13:29544352..29545550hg18UCSC Ensembl
Innerchr13:29545352..29544550hg18UCSC Ensembl
Outerchr13:29543352..29546550hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3367308
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688921
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer