A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675840



Internal ID9941945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240592909..240593424hg38UCSC Ensembl
chr1:240756209..240756724hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38516
hg19516
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5742712, essv5791107, essv6418439, essv6102214, essv6438413
SamplesNA20344, NA19449, NA19099, NA18909, NA18511
Known GenesGREM2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675840
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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