A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5312824



Internal ID8057873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:56057340..56058851hg38UCSC Ensembl
Outerchr4:56923506..56925017hg19UCSC Ensembl
Outerchr4:56618263..56619774hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381512
hg191512
hg181512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2641155
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)essv5312824
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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