A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1052787



Internal ID12215912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:26027562..26027562hg38UCSC Ensembl
chr8:25885078..25885078hg19UCSC Ensembl
chr8:25940995..25940995hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38135
hg19135
hg18135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3699568
SamplesHuRef
Known GenesEBF2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1052787
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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