A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2591981



Internal ID8655539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:128125872..128127330hg38UCSC Ensembl
Outerchr7:127765924..127767382hg19UCSC Ensembl
Outerchr7:127553160..127554618hg18UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg381459
hg191459
hg181459
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5316687
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)esv2591981
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