A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2448996



Internal ID8512554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:64854387..64858913hg38UCSC Ensembl
Innerchr7:64314765..64319291hg19UCSC Ensembl
Innerchr7:63952200..63956726hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg384527
hg194527
hg184527
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5206214
SamplesNA18507
Known Genes
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)esv2448996
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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