A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5260785



Internal ID8005834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:71420132..71420773hg38UCSC Ensembl
Outerchr10:73179889..73180530hg19UCSC Ensembl
Outerchr10:72849895..72850536hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38410
hg19410
hg18410
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2572592
Supporting Variants
SamplesNA18507
Known GenesCDH23
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)essv5260785
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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