A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3573155



Internal ID6697851
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1002020
Supporting Variants
SamplesHuRef
Known GenesC4orf21
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3573155
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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