A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3685550



Internal ID12076319
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1678762
Supporting Variants
SamplesHuRef
Known GenesATP10B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3685550
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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