A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5190963



Internal ID8282698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:144663705..144665315hg38UCSC Ensembl
Outerchr7:144360798..144362408hg19UCSC Ensembl
Outerchr7:143991731..143993341hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381611
hg191611
hg181611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2490376
Supporting Variants
SamplesNA18507
Known GenesTPK1
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)essv5190963
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