A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5278274



Internal ID8023323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:224491415..224492937hg38UCSC Ensembl
Outerchr2:225356132..225357654hg19UCSC Ensembl
Outerchr2:225064376..225065898hg18UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg381523
hg191523
hg181523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2464203
Supporting Variants
SamplesNA18507
Known GenesCUL3
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)essv5278274
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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