A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6053136



Internal ID8982256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:120467142..120469291hg38UCSC Ensembl
chr10:122226654..122228803hg19UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg382150
hg192150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2676968
Supporting Variants
SamplesHG00577
Known GenesPPAPDC1A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6053136
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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