A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2424590



Internal ID8488149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:39215949..39217441hg38UCSC Ensembl
Outerchr4:39217569..39219061hg19UCSC Ensembl
Outerchr4:38893964..38895456hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381493
hg191493
hg181493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161824
SamplesNA18507
Known GenesMIR1273H, WDR19
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)esv2424590
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