A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2481095



Internal ID8197967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19666387..19667886hg38UCSC Ensembl
Outerchr8:19523898..19525397hg19UCSC Ensembl
Outerchr8:19568178..19569677hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg381500
hg191500
hg181500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5350766
SamplesNA18507
Known GenesCSGALNACT1
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)esv2481095
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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