A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5225036



Internal ID7970085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246575727..246576390hg38UCSC Ensembl
Outerchr1:246739029..246739692hg19UCSC Ensembl
Outerchr1:244805652..244806315hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38462
hg19462
hg18462
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2499098
Supporting Variants
SamplesNA18507
Known GenesCNST
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)essv5225036
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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