A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13807103



Internal ID3808919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52308882..52309368hg38UCSC Ensembl
Innerchr10:52308904..52309347hg38UCSC Ensembl
Outerchr10:52308861..52309390hg38UCSC Ensembl
chr10:54068642..54069128hg19UCSC Ensembl
Innerchr10:54068664..54069107hg19UCSC Ensembl
Outerchr10:54068621..54069150hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38487
hg19487
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623245
Supporting Variants
SamplesNA19448
Known GenesPRKG1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13807103
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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