A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2533975



Internal ID8597533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:40984862..40986476hg38UCSC Ensembl
Outerchr11:41006412..41008026hg19UCSC Ensembl
Outerchr11:40962988..40964602hg18UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg381615
hg191615
hg181615
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5345600
SamplesNA18507
Known GenesLRRC4C
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)esv2533975
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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