A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658765



Internal ID9578184
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6020468
SamplesNA19332
Known GenesUNC119B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658765
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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