A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2619228



Internal ID8682786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:166754989..166762983hg38UCSC Ensembl
Innerchr4:167676140..167684134hg19UCSC Ensembl
Innerchr4:167912715..167920709hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg387995
hg197995
hg187995
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5191158
SamplesNA18507
Known GenesSPOCK3
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)esv2619228
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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