A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4307221



Internal ID11243073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47485819..47485871hg38UCSC Ensembl
chr4:47487836..47487888hg19UCSC Ensembl
chr4:47182593..47182645hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1569407
Supporting Variants
SamplesHuRef
Known GenesATP10D
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4307221
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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