A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5290540



Internal ID8382275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:5160091..5160836hg38UCSC Ensembl
Outerchr1:5220151..5220896hg19UCSC Ensembl
Outerchr1:5120011..5120756hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38451
hg19451
hg18451
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2465114
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)essv5290540
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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