A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1756302



Internal ID12572734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:9971886..9971986hg38UCSC Ensembl
chr19:10082562..10082662hg19UCSC Ensembl
chr19:9943562..9943662hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38101
hg19101
hg18101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4076902
SamplesHuRef
Known GenesCOL5A3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1756302
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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