A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2474906



Internal ID8538464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:51382672..51414964hg38UCSC Ensembl
Innerchr7:51450369..51482661hg19UCSC Ensembl
Innerchr7:51417863..51450155hg18UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg3832293
hg1932293
hg1832293
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5317887
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)esv2474906
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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