A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677866



Internal ID9597285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:101160034..101164091hg38UCSC Ensembl
chr4:102081191..102085248hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg384058
hg194058
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6147611, essv6240568
SamplesNA19404, HG01375
Known GenesPPP3CA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677866
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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