A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675818



Internal ID9941923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48307582..48308381hg38UCSC Ensembl
chr13:48881718..48882517hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38800
hg19800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5827764, essv6009511, essv5644741, essv6287702, essv6211339, essv6031106, essv5496234, essv5793780, essv5701728, essv5497026, essv5859210, essv6531095, essv6241227, essv5573609, essv6498927, essv6061428, essv6169709, essv5663079, essv5814582, essv5434666, essv6402084, essv6323785, essv5830819
SamplesNA20761, NA20808, HG01140, NA07346, HG01366, HG01488, NA20774, HG01067, HG01048, NA19789, HG00108, HG00183, NA20506, NA19774, HG00124, NA20773, HG00119, NA20792, NA19679, HG01491, NA20582, HG01251, NA19661
Known GenesRB1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675818
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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