A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672169



Internal ID9591588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122365137..122365592hg38UCSC Ensembl
Outerchr12:122365100..122365642hg38UCSC Ensembl
Innerchr12:122849684..122850139hg19UCSC Ensembl
Outerchr12:122849647..122850189hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38543
hg19543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5883803, essv6207462
SamplesNA19147, NA19360
Known GenesCLIP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672169
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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