A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2571087



Internal ID8634645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:41194441..41195764hg38UCSC Ensembl
Outerchr1:41660113..41661436hg19UCSC Ensembl
Outerchr1:41432700..41434023hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381324
hg191324
hg181324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5206154
SamplesNA18507
Known GenesMIR5095, SCMH1
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)esv2571087
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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