A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6367623



Internal ID9314330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8741162..8746584hg38UCSC Ensembl
Innerchr12:8893758..8899180hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg385423
hg195423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666539
Supporting Variants
SamplesNA18504
Known GenesRIMKLB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6367623
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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