A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3218200



Internal ID10891180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1051371..1051420hg38UCSC Ensembl
chr19:1051370..1051419hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7487767
SamplesHuRef
Known GenesABCA7
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3218200
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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