A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5715733



Internal ID8748647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:10217368..10219974hg38UCSC Ensembl
Outerchr20:10216797..10220344hg38UCSC Ensembl
Innerchr20:10198016..10200622hg19UCSC Ensembl
Outerchr20:10197445..10200992hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg383548
hg193548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2674016
Supporting Variants
SamplesHG00138
Known GenesSNAP25, SNAP25-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5715733
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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