A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2472537



Internal ID1503077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:120785821..120787197hg38UCSC Ensembl
Outerchr4:121706976..121708352hg19UCSC Ensembl
Outerchr4:121926426..121927802hg18UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg381377
hg191377
hg181377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5372917
SamplesNA18507
Known GenesPRDM5
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)esv2472537
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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