A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5358521



Internal ID8450256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:74941093..74942633hg38UCSC Ensembl
Outerchr5:74236918..74238458hg19UCSC Ensembl
Outerchr5:74272674..74274214hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg381541
hg191541
hg181541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2581222
Supporting Variants
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)essv5358521
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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