A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2484083



Internal ID8200955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:74820737..74822269hg38UCSC Ensembl
Outerchr11:74531782..74533314hg19UCSC Ensembl
Outerchr11:74209430..74210962hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg381533
hg191533
hg181533
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5260893
SamplesNA18507
Known GenesRNF169
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)esv2484083
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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