A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2634786



Internal ID8698344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:95408725..95409800hg38UCSC Ensembl
Outerchr5:94744429..94745504hg19UCSC Ensembl
Outerchr5:94770185..94771260hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38172
hg19172
hg18172
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5179006
SamplesNA18507
Known GenesFAM81B
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)esv2634786
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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