A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6347726



Internal ID9325129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42615442..43467915hg38UCSC Ensembl
chr21:44035552..44887795hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38852474
hg19852244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666871
Supporting Variants
SamplesNA20502
Known GenesCBS, CRYAA, LINC00313, LINC00319, LINC00322, NDUFV3, PDE9A, PKNOX1, SIK1, U2AF1, WDR4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6347726
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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