A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647072



Internal ID7033814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41927656..41929024hg38UCSC Ensembl
Innerchr21:41927837..41928843hg38UCSC Ensembl
Outerchr21:41927475..41929205hg38UCSC Ensembl
chr21:43347765..43349133hg19UCSC Ensembl
Innerchr21:43347946..43348952hg19UCSC Ensembl
Outerchr21:43347584..43349314hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381369
hg191369
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16324310
SamplesNA18635
Known GenesC2CD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647072
Frequency
Sample Size2504
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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