A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000557



Internal ID6712699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:77290149..77290624hg38UCSC Ensembl
chr3:77339300..77339775hg19UCSC Ensembl
chr3:77421990..77422465hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38476
hg19476
hg18476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3569968
SamplesHuRef
Known GenesROBO2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000557
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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