A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2518907



Internal ID8582465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:6833695..6838967hg38UCSC Ensembl
Innerchr10:6875657..6880929hg19UCSC Ensembl
Innerchr10:6915663..6920935hg18UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg385273
hg195273
hg185273
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5339392
SamplesNA18507
Known GenesLINC00707
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)esv2518907
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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