A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5229344



Internal ID7974393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:45473117..45474573hg38UCSC Ensembl
Outerchr2:45700256..45701712hg19UCSC Ensembl
Outerchr2:45553760..45555216hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381457
hg191457
hg181457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2590571
Supporting Variants
SamplesNA18507
Known GenesSRBD1
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)essv5229344
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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