A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5172995



Internal ID8264730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77035914..77037485hg38UCSC Ensembl
Outerchr18:74747870..74749441hg19UCSC Ensembl
Outerchr18:72876858..72878429hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381572
hg191572
hg181572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2578357
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)essv5172995
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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