A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1270e199



Internal ID20124572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12013457..12657801hg38UCSC Ensembl
chr8:11870966..12515310hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38644345
hg19644345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2670984, esv2656646
SamplesNA19734, HG00566
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, USP17L2, USP17L7, ZNF705D
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1270e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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