A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670012



Internal ID9589431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:50199055..50201961hg38UCSC Ensembl
Outerchr17:50198684..50202331hg38UCSC Ensembl
Innerchr17:48276416..48279322hg19UCSC Ensembl
Outerchr17:48276045..48279692hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg383648
hg193648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5747441, essv6075924, essv6002441, essv5406086, essv5931544, essv6208770, essv5642941, essv5548370, essv5598653, essv6013757, essv6016183, essv5859347, essv6443109, essv6255389, essv6319016, essv5841169, essv6299417, essv5964797, essv6134446, essv5731436, essv5677601, essv5912798, essv5540767, essv5622111, essv6407516, essv6218037, essv6447714, essv6307753, essv5926653, essv6396898, essv6178218, essv5648686, essv6278810, essv5908720, essv5665586
SamplesNA18599, NA18616, NA18602, NA18627, NA18597, NA18595, NA18635, NA18567, NA18618, NA18574, NA18611, NA18560, NA18617, NA18539, NA18614, NA18544, NA18613, NA18637, NA18534, NA18630, NA18548, NA18626, NA18541, NA18546, NA18535, NA18543, NA18559, NA18628, NA18615, NA18631, NA18636, NA18623, NA18612, NA18549, NA18620
Known GenesCOL1A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670012
Frequency
Sample Size1151
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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