A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5346390



Internal ID8438125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196760586..196854711hg38UCSC Ensembl
Innerchr1:196729716..196823841hg19UCSC Ensembl
Innerchr1:194996339..195090464hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3894126
hg1994126
hg1894126
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2652513
Supporting Variants
SamplesNA18507
Known GenesCFHR1, CFHR3
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)essv5346390
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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