A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009126



Internal ID7059172
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3575467
SamplesHuRef
Known GenesHPSE
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009126
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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