A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2591391



Internal ID8654949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:156895189..156896614hg38UCSC Ensembl
Outerchr4:157816341..157817766hg19UCSC Ensembl
Outerchr4:158035791..158037216hg18UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg381426
hg191426
hg181426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5176668
SamplesNA18507
Known GenesPDGFC
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)esv2591391
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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