A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5230314



Internal ID8322049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:95025522..95050428hg38UCSC Ensembl
Outerchr11:94758686..94783592hg19UCSC Ensembl
Outerchr11:94398334..94423240hg18UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3824907
hg1924907
hg1824907
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2446980
Supporting Variants
SamplesNA18507
Known GenesKDM4E
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)essv5230314
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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