A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2649114



Internal ID8365986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:167056270..167056685hg38UCSC Ensembl
Outerchr1:167025507..167025922hg19UCSC Ensembl
Outerchr1:165292131..165292546hg18UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38881
hg19881
hg18881
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5253996
SamplesNA18507
Known GenesGPA33
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)esv2649114
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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