A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6108509



Internal ID9085912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54593862..54594846hg38UCSC Ensembl
Outerchr2:54593825..54594896hg38UCSC Ensembl
Innerchr2:54820999..54821983hg19UCSC Ensembl
Outerchr2:54820962..54822033hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg381072
hg191072
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676637
Supporting Variants
SamplesNA19834
Known GenesSPTBN1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6108509
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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