A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5277327



Internal ID8369062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:120668483..120670089hg38UCSC Ensembl
Outerchr8:121680723..121682329hg19UCSC Ensembl
Outerchr8:121749904..121751510hg18UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg381607
hg191607
hg181607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2627304
Supporting Variants
SamplesNA18507
Known GenesSNTB1
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)essv5277327
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