A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002478



Internal ID6714613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56106733..56106733hg38UCSC Ensembl
chr19:56618102..56618102hg19UCSC Ensembl
chr19:61309914..61309914hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3576654
SamplesHuRef
Known GenesZNF787
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002478
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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