A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2640649



Internal ID8704207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21292137..21321347hg38UCSC Ensembl
Innerchr17:21195449..21224659hg19UCSC Ensembl
Innerchr17:21136042..21165252hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3829211
hg1929211
hg1829211
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5263569
SamplesNA18507
Known GenesMAP2K3
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)esv2640649
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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