A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997752



Internal ID7063973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:17643269..17648500hg38UCSC Ensembl
Outerchr4:17644892..17650123hg19UCSC Ensembl
Outerchr4:17253990..17259221hg18UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg385232
hg195232
hg185232
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563646
SamplesHuRef
Known GenesFAM184B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997752
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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