A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5256130



Internal ID8347865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:155345699..155349286hg38UCSC Ensembl
Innerchr7:155138399..155141989hg19UCSC Ensembl
Innerchr7:154831155..154834742hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg383588
hg193591
hg183588
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2480413
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)essv5256130
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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