A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2423751



Internal ID8487309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:35009509..35011120hg38UCSC Ensembl
Outerchr3:35051001..35052612hg19UCSC Ensembl
Outerchr3:35026005..35027616hg18UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg381612
hg191612
hg181612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5378552
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)esv2423751
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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