A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647918



Internal ID7034657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45071415..45075072hg38UCSC Ensembl
Innerchr22:45071426..45075062hg38UCSC Ensembl
Outerchr22:45071405..45075083hg38UCSC Ensembl
chr22:45467296..45470953hg19UCSC Ensembl
Innerchr22:45467307..45470943hg19UCSC Ensembl
Outerchr22:45467286..45470964hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg383658
hg193658
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16440521, essv16440520
SamplesNA19443, HG02351
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647918
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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