A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000908



Internal ID7066037
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3574674
SamplesHuRef
Known GenesHELZ2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000908
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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