A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5350882



Internal ID8442617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:191520278..191521835hg38UCSC Ensembl
Outerchr2:192385004..192386561hg19UCSC Ensembl
Outerchr2:192093249..192094806hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg381558
hg191558
hg181558
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2505157
Supporting Variants
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)essv5350882
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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