A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2527036



Internal ID8590594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:40312211..40317889hg38UCSC Ensembl
Outerchr11:40333761..40339439hg19UCSC Ensembl
Outerchr11:40290337..40296015hg18UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg385679
hg195679
hg185679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5229701
SamplesNA18507
Known GenesLRRC4C
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)esv2527036
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