A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667287



Internal ID9933392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:107791771..107796151hg38UCSC Ensembl
Outerchr13:107791614..107796304hg38UCSC Ensembl
Innerchr13:108444119..108448499hg19UCSC Ensembl
Outerchr13:108443962..108448652hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg384691
hg194691
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6386570, essv6306072
SamplesNA18623, NA18577
Known GenesFAM155A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667287
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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