A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2604392



Internal ID8321264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38962992..38990193hg38UCSC Ensembl
Innerchr22:39358997..39386198hg19UCSC Ensembl
Innerchr22:37688943..37716144hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3827202
hg1927202
hg1827202
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5336526
SamplesNA18507
Known GenesAPOBEC3A, APOBEC3A_B, APOBEC3B
MethodSequencing
AnalysisCopy number variations are detected using the SOLiD Human CNV Tool. Regions with poor mappability are filtered out from consideration and a log ratio of coverage is used to determine areas of increased copy number. A Hidden Markov Model converts increased coverage into discrete copy number states.
PlatformNot specified
CommentsoriginalFile=Yoruban_cnv.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2604392
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer