A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2573979



Internal ID8637537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:137117121..137117775hg38UCSC Ensembl
Outerchr6:137438258..137438912hg19UCSC Ensembl
Outerchr6:137479951..137480605hg18UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38512
hg19512
hg18512
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5241164
SamplesNA18507
Known Genes
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)esv2573979
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