A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5268489



Internal ID8360224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3972876..3975326hg38UCSC Ensembl
Outerchr19:3972874..3975324hg19UCSC Ensembl
Outerchr19:3923874..3926324hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382451
hg192451
hg182451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2442702
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)essv5268489
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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