A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2469451



Internal ID1499991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:33458733..33459059hg38UCSC Ensembl
Outerchr19:33949639..33949965hg19UCSC Ensembl
Outerchr19:38641479..38641805hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38824
hg19824
hg18824
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5251764
SamplesNA18507
Known GenesPEPD
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)esv2469451
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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