A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6020468



Internal ID8997871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120714488..120715548hg38UCSC Ensembl
Outerchr12:120714331..120715701hg38UCSC Ensembl
Innerchr12:121152291..121153351hg19UCSC Ensembl
Outerchr12:121152134..121153504hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381371
hg191371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658765
Supporting Variants
SamplesNA19332
Known GenesUNC119B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6020468
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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