A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2515788



Internal ID8232661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:35080978..35082597hg38UCSC Ensembl
Outerchr14:35550184..35551803hg19UCSC Ensembl
Outerchr14:34619935..34621554hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg381620
hg191620
hg181620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5274606
SamplesNA18507
Known GenesFAM177A1
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)esv2515788
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