A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13803067



Internal ID3804883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50505058..50530326hg38UCSC Ensembl
Innerchr10:50505208..50530176hg38UCSC Ensembl
Outerchr10:50504908..50530476hg38UCSC Ensembl
chr10:52264818..52290086hg19UCSC Ensembl
Innerchr10:52264968..52289936hg19UCSC Ensembl
Outerchr10:52264668..52290236hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3825269
hg1925269
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623205
Supporting Variants
SamplesHG03868
Known GenesSGMS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13803067
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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