A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2483378



Internal ID8546936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:84479022..84480399hg38UCSC Ensembl
Outerchr7:84108338..84109715hg19UCSC Ensembl
Outerchr7:83946274..83947651hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg381378
hg191378
hg181378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5304182
SamplesNA18507
Known Genes
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)esv2483378
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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