A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13351041



Internal ID1254368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:138791343..138801396hg38UCSC Ensembl
chr8:139803586..139813639hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg3810054
hg1910054
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618994
Supporting Variants
SamplesHG01107
Known GenesCOL22A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13351041
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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