A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4192037



Internal ID11127889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57732272..57732334hg38UCSC Ensembl
chr18:55399504..55399566hg19UCSC Ensembl
chr18:53550502..53550564hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3863
hg1963
hg1863
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1050363
Supporting Variants
SamplesHuRef
Known GenesATP8B1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4192037
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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