A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2623034



Internal ID8339906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:25208421..25213745hg38UCSC Ensembl
Outerchr8:25065937..25071261hg19UCSC Ensembl
Outerchr8:25121854..25127178hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg385325
hg195325
hg185325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5287950
SamplesNA18507
Known GenesDOCK5
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)esv2623034
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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