A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3571151



Internal ID6695847
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv993048
Supporting Variants
SamplesHuRef
Known GenesCOL3A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3571151
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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