A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2603228



Internal ID8320100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:123584310..123584765hg38UCSC Ensembl
Outerchr11:123455018..123455473hg19UCSC Ensembl
Outerchr11:122960228..122960683hg18UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg38742
hg19742
hg18742
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5197129
SamplesNA18507
Known GenesGRAMD1B
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)esv2603228
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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