A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2491993



Internal ID8208865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146436514..146442759hg38UCSC Ensembl
Innerchr7:146133606..146139851hg19UCSC Ensembl
Innerchr7:145764539..145770784hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg386246
hg196246
hg186246
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5198203
SamplesNA18507
Known GenesCNTNAP2
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)esv2491993
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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