A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2525124



Internal ID8241996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:106051691..106053209hg38UCSC Ensembl
Outerchr4:106972848..106974366hg19UCSC Ensembl
Outerchr4:107192297..107193815hg18UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg381519
hg191519
hg181519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5176358
SamplesNA18507
Known GenesTBCK
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)esv2525124
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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