A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2431549



Internal ID8148421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:76495662..76499891hg38UCSC Ensembl
Innerchr10:78255420..78259649hg19UCSC Ensembl
Innerchr10:77925426..77929655hg18UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg384230
hg194230
hg184230
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5253744
SamplesNA18507
Known GenesC10orf11
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)esv2431549
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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