A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5251376



Internal ID8343111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:61162326..61164123hg38UCSC Ensembl
Outerchr4:62028044..62029841hg19UCSC Ensembl
Outerchr4:61710639..61712436hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg381798
hg191798
hg181798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2484819
Supporting Variants
SamplesNA18507
Known Genes
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)essv5251376
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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