A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5199982



Internal ID7945031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:121747053..121748849hg38UCSC Ensembl
Outerchr12:122184959..122186755hg19UCSC Ensembl
Outerchr12:120669342..120671138hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381797
hg191797
hg181797
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2625237
Supporting Variants
SamplesNA18507
Known GenesTMEM120B
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)essv5199982
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