A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990670



Internal ID6726636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188980364..188980415hg38UCSC Ensembl
chr2:189845090..189845141hg19UCSC Ensembl
chr2:189553335..189553386hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3566776
SamplesHuRef
Known GenesCOL3A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990670
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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