A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5283434



Internal ID8028483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:94772779..94774356hg38UCSC Ensembl
Outerchr5:94108484..94110061hg19UCSC Ensembl
Outerchr5:94134240..94135817hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg381578
hg191578
hg181578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2648135
Supporting Variants
SamplesNA18507
Known GenesMCTP1
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)essv5283434
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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