A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2508066



Internal ID8571624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:76392333..76395203hg38UCSC Ensembl
Outerchr18:74104289..74107159hg19UCSC Ensembl
Outerchr18:72233277..72236147hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg382871
hg192871
hg182871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5378131
SamplesNA18507
Known GenesZNF516
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)esv2508066
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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