A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6305650



Internal ID9402216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:103446702..103454647hg38UCSC Ensembl
Outerchr12:103446665..103454697hg38UCSC Ensembl
Innerchr12:103840480..103848425hg19UCSC Ensembl
Outerchr12:103840443..103848475hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg388033
hg198033
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2665947
Supporting Variants
SamplesNA18606
Known GenesC12orf42
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6305650
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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