A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2625456



Internal ID8689014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:76966916..76967510hg38UCSC Ensembl
Outerchr18:74678872..74679466hg19UCSC Ensembl
Outerchr18:72807860..72808454hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38561
hg19561
hg18561
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5188214
SamplesNA18507
Known GenesZNF236
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)esv2625456
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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