A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3575467



Internal ID7046849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83300557..83300841hg38UCSC Ensembl
chr4:84221710..84221994hg19UCSC Ensembl
chr4:84440734..84441018hg18UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38285
hg19285
hg18285
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009126
Supporting Variants
SamplesHuRef
Known GenesHPSE
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3575467
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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