A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5287830



Internal ID8379565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148897989..148975934hg38UCSC Ensembl
Innerchr1:144908540..144986503hg19UCSC Ensembl
Innerchr1:143619897..143697860hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3877946
hg1977964
hg1877964
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2455158
Supporting Variants
SamplesNA18507
Known GenesLOC100288142, NBPF12, NBPF9, PDE4DIP
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)essv5287830
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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