A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5193584



Internal ID8285319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:77706318..77707541hg38UCSC Ensembl
Outerchr11:77417363..77418586hg19UCSC Ensembl
Outerchr11:77095011..77096234hg18UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg381224
hg191224
hg181224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2612929
Supporting Variants
SamplesNA18507
Known GenesRSF1
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)essv5193584
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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