A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3583142



Internal ID6707838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:88760320..88760641hg38UCSC Ensembl
chr4:89681471..89681792hg19UCSC Ensembl
chr4:89900494..89900815hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38322
hg19322
hg18322
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1010735
Supporting Variants
SamplesHuRef
Known GenesFAM13A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3583142
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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