A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2618979



Internal ID8335851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:45414306..45415957hg38UCSC Ensembl
Outerchr2:45641445..45643096hg19UCSC Ensembl
Outerchr2:45494949..45496600hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381652
hg191652
hg181652
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5242566
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)esv2618979
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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