A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6311849



Internal ID9289252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111312604..111314525hg38UCSC Ensembl
Outerchr12:111312560..111314575hg38UCSC Ensembl
Innerchr12:111750408..111752329hg19UCSC Ensembl
Outerchr12:111750364..111752379hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg382016
hg192016
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667290
Supporting Variants
SamplesHG00560
Known GenesCUX2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6311849
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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