A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669675



Internal ID9589094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141965120..141966999hg38UCSC Ensembl
chr3:141683962..141685841hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg381880
hg191880
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5645545, essv5907692, essv5805220, essv6403227, essv6337813, essv5640970, essv5976714, essv5829913, essv5826620
SamplesNA18504, NA19396, NA19138, NA19225, NA19395, NA19375, NA19108, NA19430, NA19346
Known GenesTFDP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669675
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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