A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2528820



Internal ID8245692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:186353790..186355282hg38UCSC Ensembl
Outerchr1:186322922..186324414hg19UCSC Ensembl
Outerchr1:184589545..184591037hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg381493
hg191493
hg181493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5264971
SamplesNA18507
Known GenesMIR548F1, TPR
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)esv2528820
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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