A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1218e199



Internal ID20124520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76454485..77040043hg38UCSC Ensembl
chr7:76083802..76669360hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38585559
hg19585559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2667579, esv2658510, esv2675417, esv2673053
SamplesHG00542, NA12058, HG00689, HG00346, HG00690, HG00404, NA19469, NA19248
Known GenesDTX2, DTX2P1-UPK3BP1-PMS2P11, FDPSP2, LOC100132832, LOC100133091, POMZP3, UPK3B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1218e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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