A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673668



Internal ID9593087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:182164054..182164951hg38UCSC Ensembl
Outerchr2:182163897..182165104hg38UCSC Ensembl
Innerchr2:183028781..183029678hg19UCSC Ensembl
Outerchr2:183028624..183029831hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg381208
hg191208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6415214, essv6234395
SamplesNA11930, NA19707
Known GenesPDE1A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673668
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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