A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5251098



Internal ID7996147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:49725305..49726230hg38UCSC Ensembl
Outerchr14:50192023..50192948hg19UCSC Ensembl
Outerchr14:49261773..49262698hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38255
hg19255
hg18255
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2484466
Supporting Variants
SamplesNA18507
Known GenesKLHDC1
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)essv5251098
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer