A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2536024



Internal ID8599582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:36504517..36506263hg38UCSC Ensembl
Outerchr2:36731660..36733406hg19UCSC Ensembl
Outerchr2:36585164..36586910hg18UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg381747
hg191747
hg181747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5174884
SamplesNA18507
Known GenesCRIM1
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)esv2536024
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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