A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2647244



Internal ID8710802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:120492845..120497783hg38UCSC Ensembl
Innerchr9:123255123..123260061hg19UCSC Ensembl
Innerchr9:122294944..122299882hg18UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg384939
hg194939
hg184939
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5355961
SamplesNA18507
Known GenesCDK5RAP2
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)esv2647244
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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