A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659325



Internal ID9925430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:224603984..224605964hg38UCSC Ensembl
Outerchr2:224603947..224606014hg38UCSC Ensembl
Innerchr2:225468701..225470681hg19UCSC Ensembl
Outerchr2:225468664..225470731hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg382068
hg192068
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6588839
SamplesNA20756
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659325
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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