A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002020



Internal ID6714155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:112548824..112549130hg38UCSC Ensembl
chr4:113469980..113470286hg19UCSC Ensembl
chr4:113689429..113689735hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38307
hg19307
hg18307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3573155
SamplesHuRef
Known GenesC4orf21
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002020
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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