A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5220048



Internal ID7965097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:75763091..75764033hg38UCSC Ensembl
Outerchr11:75474136..75475078hg19UCSC Ensembl
Outerchr11:75151784..75152726hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38362
hg19362
hg18362
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2636970
Supporting Variants
SamplesNA18507
Known GenesLOC283214
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)essv5220048
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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