A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3566776



Internal ID6691472
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv990670
Supporting Variants
SamplesHuRef
Known GenesCOL3A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3566776
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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