A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2573580



Internal ID8290452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:25340457..25342459hg38UCSC Ensembl
Innerchr2:25563326..25565328hg19UCSC Ensembl
Innerchr2:25416830..25418832hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382003
hg192003
hg182003
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5247294
SamplesNA18507
Known GenesDNMT3A
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)esv2573580
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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