A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658379



Internal ID9924484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:139284901..139286497hg38UCSC Ensembl
chr3:139003743..139005339hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg381597
hg191597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5535532, essv6482988, essv6444865, essv5800268, essv5908873, essv6450359, essv6587224
SamplesNA19394, NA18508, NA18519, HG01390, NA18912, NA19257, NA19463
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658379
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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