A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647950



Internal ID7034689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46244416..46255262hg38UCSC Ensembl
Innerchr22:46244566..46255112hg38UCSC Ensembl
Outerchr22:46244266..46255412hg38UCSC Ensembl
chr22:46640313..46651159hg19UCSC Ensembl
Innerchr22:46640463..46651009hg19UCSC Ensembl
Outerchr22:46640163..46651309hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3810847
hg1910847
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16445117
SamplesHG03478
Known GenesCDPF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647950
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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