A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622359



Internal ID6662529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12078076..12082145hg38UCSC Ensembl
Innerchr10:12078076..12082145hg38UCSC Ensembl
Outerchr10:12077792..12082433hg38UCSC Ensembl
chr10:12120075..12124144hg19UCSC Ensembl
Innerchr10:12120075..12124144hg19UCSC Ensembl
Outerchr10:12119791..12124432hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg384070
hg194070
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13696226
SamplesHG00285
Known GenesDHTKD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622359
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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