A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000260



Internal ID6712406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:7994070..7995168hg38UCSC Ensembl
chr4:7995797..7996895hg19UCSC Ensembl
chr4:8046697..8047795hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3571450
SamplesHuRef
Known GenesABLIM2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000260
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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