A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000500



Internal ID6712642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:154125788..154126109hg38UCSC Ensembl
chr6:154446923..154447244hg19UCSC Ensembl
chr6:154488615..154488936hg18UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg38322
hg19322
hg18322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3568554
SamplesHuRef
Known GenesOPRM1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000500
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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