A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672412



Internal ID9938517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:84699704..84700508hg38UCSC Ensembl
chr15:85242935..85243739hg19UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg38805
hg19805
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5800211, essv6407632, essv6179539, essv6594561, essv6447700, essv6407496, essv5587106, essv5851397, essv5973349, essv6227932, essv5589750
SamplesNA19920, NA19374, NA19373, NA18923, NA19457, HG01440, NA19257, NA19225, NA19375, NA19312, NA19431
Known GenesSEC11A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672412
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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