A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5371589



Internal ID8116638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57342200..60607842hg38UCSC Ensembl
Innerchr6:57206998..57575589hg19UCSC Ensembl
Innerchr6:57314957..57683548hg18UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg383265643
hg19368592
hg18368592
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2453782
Supporting Variants
SamplesNA18507
Known GenesPRIM2
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)essv5371589
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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