A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2577067



Internal ID8293939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3996299..3998169hg38UCSC Ensembl
Outerchr18:3996299..3998169hg19UCSC Ensembl
Outerchr18:3986299..3988169hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381871
hg191871
hg181871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5351542
SamplesNA18507
Known GenesDLGAP1, DLGAP1-AS4
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)esv2577067
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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