A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565880



Internal ID7037262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13887180..13887387hg38UCSC Ensembl
chr18:13887179..13887386hg19UCSC Ensembl
chr18:13877179..13877386hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38208
hg19208
hg18208
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv989455
Supporting Variants
SamplesHuRef
Known GenesMC2R
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565880
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer