A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998431



Internal ID7064301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:123634709..123640423hg38UCSC Ensembl
Outerchr3:123353556..123359270hg19UCSC Ensembl
Outerchr3:124836246..124841960hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg385715
hg195715
hg185715
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564880
SamplesHuRef
Known GenesMYLK
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998431
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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