A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5366830



Internal ID8458565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:47418740..47420765hg38UCSC Ensembl
Innerchr19:47921997..47924022hg19UCSC Ensembl
Innerchr19:52613809..52615834hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg382026
hg192026
hg182026
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2479786
Supporting Variants
SamplesNA18507
Known GenesMEIS3
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)essv5366830
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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