A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3577994



Internal ID6702690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2805832..2805887hg38UCSC Ensembl
chr19:2805830..2805885hg19UCSC Ensembl
chr19:2756830..2756885hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1006393
Supporting Variants
SamplesHuRef
Known GenesTHOP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3577994
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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