A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5236741



Internal ID7981790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:8028711..8030190hg38UCSC Ensembl
Outerchr11:8050258..8051737hg19UCSC Ensembl
Outerchr11:8006834..8008313hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg381480
hg191480
hg181480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2506890
Supporting Variants
SamplesNA18507
Known Genes
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)essv5236741
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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