A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3574674



Internal ID7046056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63566501..63566501hg38UCSC Ensembl
chr20:62197854..62197854hg19UCSC Ensembl
chr20:61668298..61668298hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38138
hg19138
hg18138
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1000908
Supporting Variants
SamplesHuRef
Known GenesHELZ2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3574674
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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