A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3592013



Internal ID12169855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:22431268..22431329hg38UCSC Ensembl
chr4:22432891..22432952hg19UCSC Ensembl
chr4:22041989..22042050hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3862
hg1962
hg1862
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1778171
Supporting Variants
SamplesHuRef
Known GenesGPR125
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3592013
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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