A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5334210



Internal ID8425945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130627783..130635520hg38UCSC Ensembl
Innerchr3:130346627..130354364hg19UCSC Ensembl
Innerchr3:131829317..131837054hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg387738
hg197738
hg187738
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2639906
Supporting Variants
SamplesNA18507
Known GenesCOL6A6
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)essv5334210
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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