A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5220559



Internal ID8312294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:20694861..20792175hg38UCSC Ensembl
Innerchr5:20694970..20792284hg19UCSC Ensembl
Innerchr5:20730727..20828041hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3897315
hg1997315
hg1897315
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2643225
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)essv5220559
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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