A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678978



Internal ID9945083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:31054694..31055180hg38UCSC Ensembl
Outerchr13:31054637..31055239hg38UCSC Ensembl
Innerchr13:31628831..31629317hg19UCSC Ensembl
Outerchr13:31628774..31629376hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38603
hg19603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5930282, essv6595858, essv6209910, essv5731554, essv5948516, essv5762821, essv6359711, essv6276738, essv5984042, essv6238756, essv6590972, essv5869003, essv6534010, essv6201055, essv5589375
SamplesNA18502, NA18868, NA19471, NA19451, HG01124, NA18910, NA18871, HG01390, NA18499, NA19469, NA19380, NA19470, NA19818, NA19438, NA19711
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678978
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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