A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2604500



Internal ID8668058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29380006..29381676hg38UCSC Ensembl
Outerchr13:29954143..29955813hg19UCSC Ensembl
Outerchr13:28852143..28853813hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381671
hg191671
hg181671
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5300433
SamplesNA18507
Known GenesMTUS2
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)esv2604500
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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