A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5323734



Internal ID8068783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:38357995..38358854hg38UCSC Ensembl
Outerchr3:38399486..38400345hg19UCSC Ensembl
Outerchr3:38374490..38375349hg18UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38291
hg19291
hg18291
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2584185
Supporting Variants
SamplesNA18507
Known GenesXYLB
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)essv5323734
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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