A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5241475



Internal ID8333210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:97211736..97213133hg38UCSC Ensembl
Outerchr4:98132887..98134284hg19UCSC Ensembl
Outerchr4:98351910..98353307hg18UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg381398
hg191398
hg181398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2480456
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)essv5241475
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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