A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5287088



Internal ID8378823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:101240616..101244857hg38UCSC Ensembl
Innerchr13:101892967..101897208hg19UCSC Ensembl
Innerchr13:100690968..100695209hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg384242
hg194242
hg184242
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2524562
Supporting Variants
SamplesNA18507
Known GenesNALCN
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)essv5287088
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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