A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4011783



Internal ID11403404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31940604..31940604hg38UCSC Ensembl
chr18:29520567..29520567hg19UCSC Ensembl
chr18:27774565..27774565hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38327
hg19327
hg18327
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1720728
Supporting Variants
SamplesHuRef
Known GenesTRAPPC8
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4011783
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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