A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004244



Internal ID7069344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:63857152..63857275hg38UCSC Ensembl
chr8:64769709..64769832hg19UCSC Ensembl
chr8:64932263..64932386hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg38124
hg19124
hg18124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3583663
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004244
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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