A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2590652



Internal ID8654210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:122840887..122842517hg38UCSC Ensembl
Outerchr3:122559734..122561364hg19UCSC Ensembl
Outerchr3:124042424..124044054hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381631
hg191631
hg181631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5237817
SamplesNA18507
Known GenesDIRC2
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)esv2590652
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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