A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005654



Internal ID7070749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:21158049..21165477hg38UCSC Ensembl
Outerchr4:21159672..21167100hg19UCSC Ensembl
Outerchr4:20768770..20776198hg18UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg387429
hg197429
hg187429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565446
SamplesHuRef
Known GenesKCNIP4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005654
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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