A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3581726



Internal ID6706422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143284984..143285048hg38UCSC Ensembl
chr5:142664549..142664613hg19UCSC Ensembl
chr5:142644742..142644806hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001228
Supporting Variants
SamplesHuRef
Known GenesNR3C1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3581726
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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