A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2607867



Internal ID8671425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:53880527..53882103hg38UCSC Ensembl
Outerchr5:53176357..53177933hg19UCSC Ensembl
Outerchr5:53212114..53213690hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381577
hg191577
hg181577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5354814
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)esv2607867
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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