A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5208780



Internal ID8300515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:58108776..58119378hg38UCSC Ensembl
Innerchr12:58502559..58513161hg19UCSC Ensembl
Innerchr12:56788826..56799428hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3810603
hg1910603
hg1810603
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2437831
Supporting Variants
SamplesNA18507
Known Genes
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)essv5208780
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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