A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2646471



Internal ID8710029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:31149700..31150878hg38UCSC Ensembl
Outerchr18:28729663..28730841hg19UCSC Ensembl
Outerchr18:26983661..26984839hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38182
hg19182
hg18182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5231706
SamplesNA18507
Known GenesDSC1
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)esv2646471
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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