A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2615733



Internal ID8679291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:99008926..99012524hg38UCSC Ensembl
Outerchr5:98344630..98348228hg19UCSC Ensembl
Outerchr5:98372530..98376128hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg383599
hg193599
hg183599
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5330004
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)esv2615733
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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