A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7522729



Internal ID10454325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:29420487..29420828hg38UCSC Ensembl
Outerchr12:29573420..29573761hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3253162
Supporting Variants
SamplesHuRef
Known GenesOVCH1-AS1
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7522729
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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