A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13848750



Internal ID3850566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:68214112..68304911hg38UCSC Ensembl
chr10:69973869..70064668hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3890800
hg1990800
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623707
Supporting Variants
SamplesHG03914
Known GenesATOH7, PBLD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13848750
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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