A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5274850



Internal ID8366585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:71962240..71965152hg38UCSC Ensembl
Outerchr12:72356020..72358932hg19UCSC Ensembl
Outerchr12:70642287..70645199hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg382913
hg192913
hg182913
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2451960
Supporting Variants
SamplesNA18507
Known GenesTPH2
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)essv5274850
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