A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2649810



Internal ID8366682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236750801..236752273hg38UCSC Ensembl
Outerchr1:236914101..236915573hg19UCSC Ensembl
Outerchr1:234980724..234982196hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381473
hg191473
hg181473
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5352231
SamplesNA18507
Known GenesACTN2
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)esv2649810
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