A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5236752



Internal ID7981801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:85526999..85528393hg38UCSC Ensembl
Outerchr1:85992682..85994076hg19UCSC Ensembl
Outerchr1:85765270..85766664hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg381395
hg191395
hg181395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2440186
Supporting Variants
SamplesNA18507
Known GenesDDAH1
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)essv5236752
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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