A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2622574



Internal ID8339446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:191023919..191025444hg38UCSC Ensembl
Outerchr2:191888645..191890170hg19UCSC Ensembl
Outerchr2:191596890..191598415hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg381526
hg191526
hg181526
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5304895
SamplesNA18507
Known Genes
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)esv2622574
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