A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3580497



Internal ID6705193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1278174..1278174hg38UCSC Ensembl
chr19:1278173..1278173hg19UCSC Ensembl
chr19:1229173..1229173hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3863
hg1963
hg1863
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv990677
Supporting Variants
SamplesHuRef
Known GenesC19orf24
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3580497
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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