A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3571450



Internal ID6696146
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 StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1000260
Supporting Variants
SamplesHuRef
Known GenesABLIM2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3571450
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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