A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2512102



Internal ID8228974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:183869783..183870674hg38UCSC Ensembl
Outerchr3:183587571..183588462hg19UCSC Ensembl
Outerchr3:185070265..185071156hg18UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38279
hg19279
hg18279
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5346355
SamplesNA18507
Known GenesPARL
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)esv2512102
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer