A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5319115



Internal ID8410850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:11555251..11556827hg38UCSC Ensembl
Outerchr6:11555484..11557060hg19UCSC Ensembl
Outerchr6:11663470..11665046hg18UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg381577
hg191577
hg181577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2514109
Supporting Variants
SamplesNA18507
Known GenesTMEM170B
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)essv5319115
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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