A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3934262



Internal ID11827610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23218611..23218683hg38UCSC Ensembl
chr18:20798575..20798647hg19UCSC Ensembl
chr18:19052573..19052645hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3873
hg1973
hg1873
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1669821
Supporting Variants
SamplesHuRef
Known GenesCABLES1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3934262
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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