A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3570144



Internal ID6694840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177467972..177468027hg38UCSC Ensembl
chr5:176894973..176895028hg19UCSC Ensembl
chr5:176827579..176827634hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1004774
Supporting Variants
SamplesHuRef
Known GenesDBN1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3570144
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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