A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2515650



Internal ID8232522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:85649864..85652742hg38UCSC Ensembl
Outerchr4:86571017..86573895hg19UCSC Ensembl
Outerchr4:86790041..86792919hg18UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg382879
hg192879
hg182879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5185482
SamplesNA18507
Known GenesARHGAP24
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)esv2515650
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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