A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4309120



Internal ID11591658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:121365591..121365640hg38UCSC Ensembl
chr4:122286746..122286795hg19UCSC Ensembl
chr4:122506196..122506245hg18UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1499673
Supporting Variants
SamplesHuRef
Known GenesQRFPR
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4309120
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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