A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5255266



Internal ID8000315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22358243..23194492hg38UCSC Ensembl
Innerchr15:22678576..23615823hg19UCSC Ensembl
Innerchr15:20229940..21167264hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38836250
hg19937248
hg18937325
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2474417
Supporting Variants
SamplesNA18507
Known GenesCYFIP1, GOLGA6L1, GOLGA8DP, GOLGA8EP, GOLGA8I, GOLGA8S, HERC2P2, HERC2P7, LOC283683, LOC440243, NIPA1, NIPA2, TUBGCP5, WHAMMP3
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)essv5255266
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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