A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667096



Internal ID9933201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50404297..50404613hg38UCSC Ensembl
chr19:50907554..50907870hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5822305, essv6363984, essv5900134, essv6059658, essv5645697, essv6168293, essv5684429, essv5516441, essv6102125, essv5552810, essv5912756, essv5810756, essv6519604, essv6444011, essv5590898, essv6021689, essv6407119, essv5822029, essv5450130, essv5656797, essv5656510, essv6075937, essv5810387, essv5517851, essv6210171, essv6507254
SamplesNA19700, NA19397, NA18924, NA18510, NA19382, NA19138, NA19383, NA18868, NA20340, NA19372, NA19901, NA20342, NA20127, NA19985, NA19391, NA19327, NA19455, NA18516, NA18907, NA19449, NA19452, NA19469, NA19625, HG01108, NA18873, NA18511
Known GenesPOLD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667096
Frequency
Sample Size1151
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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