A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5230839



Internal ID8322574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:181073797..181075650hg38UCSC Ensembl
Outerchr1:181042933..181044786hg19UCSC Ensembl
Outerchr1:179309556..179311409hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381854
hg191854
hg181854
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2644663
Supporting Variants
SamplesNA18507
Known Genes
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)essv5230839
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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