A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5294377



Internal ID8039426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:42276941..42278596hg38UCSC Ensembl
Outerchr1:42742612..42744267hg19UCSC Ensembl
Outerchr1:42515199..42516854hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381656
hg191656
hg181656
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2539470
Supporting Variants
SamplesNA18507
Known GenesFOXJ3
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)essv5294377
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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