A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5207773



Internal ID8299508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:130628310..130635238hg38UCSC Ensembl
Outerchr3:130347154..130354082hg19UCSC Ensembl
Outerchr3:131829844..131836772hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg386929
hg196929
hg186929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2450346
Supporting Variants
SamplesNA18507
Known GenesCOL6A6
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)essv5207773
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