A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5170967



Internal ID8262702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:209076410..209084637hg38UCSC Ensembl
Innerchr2:209941134..209949361hg19UCSC Ensembl
Innerchr2:209649379..209657606hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg388228
hg198228
hg188228
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2592840
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)essv5170967
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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