A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5817183



Internal ID8794586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12078102..12082081hg38UCSC Ensembl
Outerchr10:12078065..12082131hg38UCSC Ensembl
Innerchr10:12120101..12124080hg19UCSC Ensembl
Outerchr10:12120064..12124130hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg384067
hg194067
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663405
Supporting Variants
SamplesHG00285
Known GenesDHTKD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5817183
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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