A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2512482



Internal ID8229354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:116535023..116536499hg38UCSC Ensembl
Outerchr1:117077645..117079121hg19UCSC Ensembl
Outerchr1:116879168..116880644hg18UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg381477
hg191477
hg181477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5227705
SamplesNA18507
Known GenesCD58
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)esv2512482
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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