A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670926



Internal ID9937031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41529765..41531768hg38UCSC Ensembl
chr13:42103901..42105904hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg382004
hg192004
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5972658, essv6167227, essv5845608, essv5450201, essv6122115, essv6189354, essv5486079, essv5456630
SamplesHG00671, NA18545, NA18990, HG00533, NA19081, HG00690, NA18634, NA18577
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670926
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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