A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5938707



Internal ID8916110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1293423..1293568hg38UCSC Ensembl
Outerchr12:1293386..1293618hg38UCSC Ensembl
Innerchr12:1402589..1402734hg19UCSC Ensembl
Outerchr12:1402552..1402784hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2666197
Supporting Variants
SamplesNA19729
Known GenesERC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5938707
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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