A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2569574



Internal ID8633132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:88054582..88055532hg38UCSC Ensembl
Outerchr10:89814339..89815289hg19UCSC Ensembl
Outerchr10:89804319..89805269hg18UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg38315
hg19315
hg18315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5199954
SamplesNA18507
Known Genes
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)esv2569574
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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