A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2474693



Internal ID8191565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10419284..10423408hg38UCSC Ensembl
Outerchr21:11089049..11093173hg19UCSC Ensembl
Outerchr21:10110920..10115044hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg384125
hg194125
hg184125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5179450
SamplesNA18507
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
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)esv2474693
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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