A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2576648



Internal ID8640206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:47159063..47160484hg38UCSC Ensembl
Outerchr4:47161080..47162501hg19UCSC Ensembl
Outerchr4:46855837..46857258hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg381422
hg191422
hg181422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5279201
SamplesNA18507
Known GenesGABRB1
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)esv2576648
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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