A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3624300



Internal ID6664467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:96596444..96598485hg38UCSC Ensembl
Innerchr10:96596468..96598462hg38UCSC Ensembl
Outerchr10:96596421..96598509hg38UCSC Ensembl
chr10:98356201..98358242hg19UCSC Ensembl
Innerchr10:98356225..98358219hg19UCSC Ensembl
Outerchr10:98356178..98358266hg19UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg382042
hg192042
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13905575, essv13905576
SamplesHG01414, HG02455
Known GenesPIK3AP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3624300
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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