A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647804



Internal ID7034543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41806119..41807712hg38UCSC Ensembl
Innerchr22:41806149..41807683hg38UCSC Ensembl
Outerchr22:41806090..41807742hg38UCSC Ensembl
chr22:42202123..42203716hg19UCSC Ensembl
Innerchr22:42202153..42203687hg19UCSC Ensembl
Outerchr22:42202094..42203746hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381594
hg191594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16430327
SamplesHG03871
Known GenesCCDC134
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647804
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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