A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676551



Internal ID9595970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122045155..122047258hg38UCSC Ensembl
Outerchr12:122045118..122047308hg38UCSC Ensembl
Innerchr12:122483061..122485164hg19UCSC Ensembl
Outerchr12:122483024..122485214hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382191
hg192191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6541658, essv5689510
SamplesNA20795, HG01191
Known GenesBCL7A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676551
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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