A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5400176



Internal ID9684841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:118009308..118010683hg38UCSC Ensembl
Outerchr12:118009254..118010733hg38UCSC Ensembl
Innerchr12:118447113..118448488hg19UCSC Ensembl
Outerchr12:118447059..118448538hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg381480
hg191480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658299
Supporting Variants
SamplesNA19436
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5400176
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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