A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665806



Internal ID9585225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12136853..12137273hg38UCSC Ensembl
chr19:12247668..12248088hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38421
hg19421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5444826, essv6574283, essv5686872, essv6285876
SamplesNA19438, HG01384, NA19462, NA19130
Known GenesZNF20, ZNF625-ZNF20
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665806
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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