A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5375273



Internal ID8120322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:179853283..179854565hg38UCSC Ensembl
Outerchr1:179822418..179823700hg19UCSC Ensembl
Outerchr1:178089041..178090323hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381283
hg191283
hg181283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2568232
Supporting Variants
SamplesNA18507
Known GenesTOR1AIP2
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)essv5375273
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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