A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5259880



Internal ID8004929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:55574356..55575868hg38UCSC Ensembl
Outerchr18:53241587..53243099hg19UCSC Ensembl
Outerchr18:51392585..51394097hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg381513
hg191513
hg181513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2487089
Supporting Variants
SamplesNA18507
Known GenesTCF4
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)essv5259880
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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