A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5470603



Internal ID9176210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2623465..2624989hg38UCSC Ensembl
chr2:2627237..2628761hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381525
hg191525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2672780
Supporting Variants
SamplesHG01384
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5470603
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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