A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3827053



Internal ID11588132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3997031..3997488hg38UCSC Ensembl
chr18:3997031..3997488hg19UCSC Ensembl
chr18:3987031..3987488hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38458
hg19458
hg18458
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1587054
Supporting Variants
SamplesHuRef
Known GenesDLGAP1, DLGAP1-AS4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3827053
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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