A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5883803



Internal ID8861206
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 StatusS
Merged Variantsesv2672169
Supporting Variants
SamplesNA19360
Known GenesCLIP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5883803
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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