A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665365



Internal ID9931470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:38804379..38807335hg38UCSC Ensembl
Outerchr13:38804008..38807705hg38UCSC Ensembl
Innerchr13:39378516..39381472hg19UCSC Ensembl
Outerchr13:39378145..39381842hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg383698
hg193698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5943309, essv5626548, essv5785689, essv5912465, essv6055836, essv5578224, essv5590077, essv6448983, essv5634321, essv6332062, essv5867263, essv6315525, essv6285963, essv6412033, essv6495441, essv5972442
SamplesNA18599, NA18545, NA18606, NA18602, NA18635, NA18571, NA18557, NA18572, NA18548, NA18573, NA18570, NA18546, NA18628, NA18615, NA18636, NA18612
Known GenesFREM2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665365
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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