A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6415214



Internal ID9392617
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 StatusS
Merged Variantsesv2673668
Supporting Variants
SamplesNA19707
Known GenesPDE1A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6415214
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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