A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3923947



Internal ID11491239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79752619..79752745hg38UCSC Ensembl
chr18:77512619..77512745hg19UCSC Ensembl
chr18:75613607..75613733hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38127
hg19127
hg18127
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1394695
Supporting Variants
SamplesHuRef
Known GenesCTDP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3923947
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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