A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001731



Internal ID6713865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:61475768..61477680hg38UCSC Ensembl
Outerchr8:62388327..62390239hg19UCSC Ensembl
Outerchr8:62550881..62552793hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg387192
hg197192
hg187192
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564095
SamplesHuRef
Known GenesCLVS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001731
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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