A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5765573



Internal ID9649861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231607840..231608241hg38UCSC Ensembl
chr1:231743586..231743987hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2656516
Supporting Variants
SamplesNA19381
Known GenesLINC00582, TSNAX-DISC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5765573
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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