A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623931



Internal ID6664098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:79876627..79978510hg38UCSC Ensembl
chr10:81636383..81738266hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38101884
hg19101884
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13870273
SamplesHG00329
Known GenesLOC100288974, MBL1P, SFTPD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623931
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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