A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993048



Internal ID6729009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188980364..188980441hg38UCSC Ensembl
chr2:189845090..189845167hg19UCSC Ensembl
chr2:189553335..189553412hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3878
hg1978
hg1878
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3571151
SamplesHuRef
Known GenesCOL3A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993048
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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