A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2538163



Internal ID8255035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:119331699..119467523hg38UCSC Ensembl
Innerchr4:120252854..120388678hg19UCSC Ensembl
Innerchr4:120472302..120608126hg18UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38135825
hg19135825
hg18135825
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5364957
SamplesNA18507
Known GenesLINC01061, LOC645513
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)esv2538163
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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