A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2581967



Internal ID8645526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148768990..148790234hg38UCSC Ensembl
Innerchr1:145098265..145119537hg19UCSC Ensembl
Innerchr1:143809622..143830894hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3821245
hg1921273
hg1821273
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5164878
SamplesNA18507
Known GenesLOC100288142, NBPF12, NBPF9, SEC22B
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)esv2581967
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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