A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3583269



Internal ID7054651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56630026..56630260hg38UCSC Ensembl
chr20:55205082..55205316hg19UCSC Ensembl
chr20:54638489..54638723hg18UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38235
hg19235
hg18235
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005986
Supporting Variants
SamplesHuRef
Known GenesTFAP2C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3583269
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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