A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13170866



Internal ID3172682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39338306..39531711hg38UCSC Ensembl
chr8:39195825..39389230hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38193406
hg19193406
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616947
Supporting Variants
SamplesHG00382
Known GenesADAM3A, ADAM5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13170866
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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