A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5725240



Internal ID8702643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:24856896..24859254hg38UCSC Ensembl
Outerchr2:24856859..24859304hg38UCSC Ensembl
Innerchr2:25079765..25082123hg19UCSC Ensembl
Outerchr2:25079728..25082173hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382446
hg192446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666034
Supporting Variants
SamplesHG00671
Known GenesADCY3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5725240
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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