A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5261931



Internal ID8353666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:13142663..13144577hg38UCSC Ensembl
Outerchr18:13142662..13144576hg19UCSC Ensembl
Outerchr18:13132662..13134576hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381915
hg191915
hg181915
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2534756
Supporting Variants
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)essv5261931
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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