A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2584069



Internal ID8647627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:102705613..102707085hg38UCSC Ensembl
Outerchr2:103322072..103323544hg19UCSC Ensembl
Outerchr2:102688504..102689976hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg381473
hg191473
hg181473
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5248128
SamplesNA18507
Known GenesSLC9A2
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)esv2584069
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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