A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7111137



Internal ID10042733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:152348822..152349149hg38UCSC Ensembl
Outerchr2:153205336..153205663hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2841570
Supporting Variants
SamplesHuRef
Known GenesFMNL2
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7111137
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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