A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5425735



Internal ID9100055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71173432..71181056hg38UCSC Ensembl
chr12:71567212..71574836hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg387625
hg197625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2657312
Supporting Variants
SamplesHG01082
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5425735
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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