A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2655219



Internal ID8718777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:130897594..130897767hg38UCSC Ensembl
Outerchr8:131909840..131910013hg19UCSC Ensembl
Outerchr8:131979022..131979195hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381078
hg191078
hg181078
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5305905
SamplesNA18507
Known GenesADCY8
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)esv2655219
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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