A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5496016



Internal ID8473419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71677710..71679875hg38UCSC Ensembl
Outerchr2:71677553..71680028hg38UCSC Ensembl
Innerchr2:71904840..71907005hg19UCSC Ensembl
Outerchr2:71904683..71907158hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg382476
hg192476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667653
Supporting Variants
SamplesNA12761
Known GenesDYSF
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5496016
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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