A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658541



Internal ID9924646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:67112340..67113280hg38UCSC Ensembl
chr15:67404678..67405618hg19UCSC Ensembl
Cytoband15q22.33
Allele length
AssemblyAllele length
hg38941
hg19941
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv457e199
Supporting Variantsessv6397594, essv5905108, essv5499084, essv6215011, essv6434763, essv6569893, essv6142713, essv5735438, essv6454751, essv6030103, essv6346087, essv6576722, essv6001578, essv5680291, essv6312223
SamplesHG00306, HG00330, HG01134, NA19719, HG00160, HG00275, HG00651, HG01197, HG01204, NA19010, HG01375, HG01137, NA19078, NA19468, NA19780
Known GenesSMAD3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658541
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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