A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1678762



Internal ID12495194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160653921..160653921hg38UCSC Ensembl
chr5:160080928..160080928hg19UCSC Ensembl
chr5:160013506..160013506hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3685550
SamplesHuRef
Known GenesATP10B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1678762
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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