A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2623784



Internal ID8687342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:125886728..125906918hg38UCSC Ensembl
Innerchr10:127575297..127595487hg19UCSC Ensembl
Innerchr10:127565287..127585477hg18UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg3820191
hg1920191
hg1820191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5186682
SamplesNA18507
Known GenesFANK1
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)esv2623784
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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