A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2491965



Internal ID8555523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:31343971..31345382hg38UCSC Ensembl
Outerchr14:31813177..31814588hg19UCSC Ensembl
Outerchr14:30882928..30884339hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg381412
hg191412
hg181412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5360051
SamplesNA18507
Known GenesHEATR5A
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)esv2491965
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