A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2500016



Internal ID8563574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:36839988..36841783hg38UCSC Ensembl
Outerchr4:36841610..36843405hg19UCSC Ensembl
Outerchr4:36518005..36519800hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381796
hg191796
hg181796
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5247399
SamplesNA18507
Known Genes
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2500016
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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