A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4026932



Internal ID11388256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31423658..31423658hg38UCSC Ensembl
chr18:29003621..29003621hg19UCSC Ensembl
chr18:27257619..27257619hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38186
hg19186
hg18186
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1389645
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4026932
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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