A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5219877



Internal ID8311612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:80307482..80308512hg38UCSC Ensembl
Outerchr1:80773167..80774197hg19UCSC Ensembl
Outerchr1:80545755..80546785hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38161
hg19161
hg18161
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2529101
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)essv5219877
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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