A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3251385



Internal ID10924365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:95946572..95949181hg38UCSC Ensembl
Outerchr12:96340350..96342959hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382610
hg192610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7520952
SamplesHuRef
Known GenesAMDHD1
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3251385
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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