A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004774



Internal ID6716897
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3570144
SamplesHuRef
Known GenesDBN1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004774
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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