A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2572304



Internal ID8289176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:199447196..199448737hg38UCSC Ensembl
Outerchr2:200311919..200313460hg19UCSC Ensembl
Outerchr2:200020164..200021705hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381542
hg191542
hg181542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5354165
SamplesNA18507
Known GenesSATB2
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)esv2572304
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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