A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5256289



Internal ID8348024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:72422305..72423312hg38UCSC Ensembl
Outerchr10:74182063..74183070hg19UCSC Ensembl
Outerchr10:73852069..73853076hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38290
hg19290
hg18290
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2554610
Supporting Variants
SamplesNA18507
Known GenesMICU1, MIR1256
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)essv5256289
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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