A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010122



Internal ID7074187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:36195280..36198079hg38UCSC Ensembl
Outerchr19:36686182..36688981hg19UCSC Ensembl
Outerchr19:41378022..41380821hg18UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg382519
hg192519
hg182519
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564947
SamplesHuRef
Known GenesZNF565
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010122
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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