A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2633646



Internal ID8697205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:180627471..180628947hg38UCSC Ensembl
Outerchr4:181548624..181550100hg19UCSC Ensembl
Outerchr4:181785618..181787094hg18UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg381477
hg191477
hg181477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5197792
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)esv2633646
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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