A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2446530



Internal ID8163402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:14279792..14280838hg38UCSC Ensembl
Outerchr21:15652113..15653159hg19UCSC Ensembl
Outerchr21:14573984..14575030hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38233
hg19233
hg18233
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5215640
SamplesNA18507
Known GenesABCC13
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)esv2446530
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer