A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2560522



Internal ID8277394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:159710334..159711711hg38UCSC Ensembl
Outerchr3:159428123..159429500hg19UCSC Ensembl
Outerchr3:160910817..160912194hg18UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg381378
hg191378
hg181378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5378987
SamplesNA18507
Known GenesIQCJ-SCHIP1, SCHIP1
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)esv2560522
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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