A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2600511



Internal ID8664069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:119559221..119598047hg38UCSC Ensembl
Outerchr1:120101844..120140670hg19UCSC Ensembl
Outerchr1:119903367..119942193hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3838827
hg1938827
hg1838827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5281567
SamplesNA18507
Known GenesHSD3BP4, LINC00622
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)esv2600511
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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