A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1135051



Internal ID11951488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57732134..57732134hg38UCSC Ensembl
chr18:55399366..55399366hg19UCSC Ensembl
chr18:53550364..53550364hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3876
hg1976
hg1876
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4037839
SamplesHuRef
Known GenesATP8B1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1135051
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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