A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5354465



Internal ID8099514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:47493922..47494996hg38UCSC Ensembl
Outerchr4:47495939..47497013hg19UCSC Ensembl
Outerchr4:47190696..47191770hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38203
hg19203
hg18203
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2588788
Supporting Variants
SamplesNA18507
Known GenesATP10D
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)essv5354465
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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