A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674876



Internal ID9594295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49703559..49704645hg38UCSC Ensembl
Outerchr12:49703402..49704798hg38UCSC Ensembl
Innerchr12:50097342..50098428hg19UCSC Ensembl
Outerchr12:50097185..50098581hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381397
hg191397
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6129847, essv6242898, essv6371235
SamplesNA19147, NA18868, NA19235
Known GenesFMNL3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674876
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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