A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2610148



Internal ID8673706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:114901588..114903208hg38UCSC Ensembl
Outerchr1:115444209..115445829hg19UCSC Ensembl
Outerchr1:115245732..115247352hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381621
hg191621
hg181621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5191894
SamplesNA18507
Known GenesSYCP1
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)esv2610148
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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