A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993190



Internal ID6729151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7615627..7629366hg38UCSC Ensembl
Outerchr19:7680513..7694252hg19UCSC Ensembl
Outerchr19:7586513..7600252hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3813740
hg1913740
hg1813740
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565418
SamplesHuRef
Known GenesCAMSAP3, MIR6792, XAB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993190
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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