A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5239511



Internal ID8331246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:159245066..159246699hg38UCSC Ensembl
Outerchr6:159666098..159667731hg19UCSC Ensembl
Outerchr6:159586088..159587721hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg381634
hg191634
hg181634
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2595923
Supporting Variants
SamplesNA18507
Known GenesFNDC1
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)essv5239511
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