A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5384724



Internal ID8129773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77057539..77059169hg38UCSC Ensembl
Outerchr18:74769495..74771125hg19UCSC Ensembl
Outerchr18:72898483..72900113hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381631
hg191631
hg181631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2425384
Supporting Variants
SamplesNA18507
Known GenesMBP
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)essv5384724
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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