A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307087



Internal ID15154035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46063180..46063181hg38UCSC Ensembl
Innerchr22:46063158..46063203hg38UCSC Ensembl
Outerchr22:46063157..46063204hg38UCSC Ensembl
chr22:46459060..46459061hg19UCSC Ensembl
Innerchr22:46459038..46459083hg19UCSC Ensembl
Outerchr22:46459037..46459084hg19UCSC Ensembl
chr22:44837724..44837725hg18UCSC Ensembl
Innerchr22:44837747..44837702hg18UCSC Ensembl
Outerchr22:44837701..44837748hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg383071
hg193071
hg183071
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7766445
SamplesNA12814
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307087
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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