A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13713841



Internal ID4920506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:20002331..20031125hg38UCSC Ensembl
Innerchr10:20002331..20031125hg38UCSC Ensembl
Outerchr10:20001831..20031625hg38UCSC Ensembl
chr10:20291260..20320054hg19UCSC Ensembl
Innerchr10:20291260..20320054hg19UCSC Ensembl
Outerchr10:20290760..20320554hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg3828795
hg1928795
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622553
Supporting Variants
SamplesNA12760
Known GenesPLXDC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13713841
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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