A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663262



Internal ID9929367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169422278..169426434hg38UCSC Ensembl
Outerchr1:169421907..169426804hg38UCSC Ensembl
Innerchr1:169391516..169395672hg19UCSC Ensembl
Outerchr1:169391145..169396042hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg384898
hg194898
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6056575, essv5573916, essv5785983, essv5729684, essv5797740, essv5775827, essv5486168, essv5828455, essv5414792, essv5414748, essv6117599, essv6411292, essv6181927, essv6177959, essv6278622, essv5530946, essv5748326, essv5650176, essv6346194
SamplesNA18621, NA18599, NA18596, NA18530, NA18606, NA18602, NA18597, NA18635, NA18619, NA18611, NA18557, NA18544, NA18536, NA18610, NA18631, NA18636, NA18623, NA18612, NA18549
Known GenesCCDC181
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663262
Frequency
Sample Size1151
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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