A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13803066



Internal ID3804882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50501615..50508923hg38UCSC Ensembl
chr10:52261375..52268683hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg387309
hg197309
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623204
Supporting Variants
SamplesHG04206
Known GenesSGMS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13803066
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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