A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5306910



Internal ID8051959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:58830051..58830909hg38UCSC Ensembl
Outerchr20:57405106..57405964hg19UCSC Ensembl
Outerchr20:56838501..56839359hg18UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38384
hg19384
hg18384
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2461600
Supporting Variants
SamplesNA18507
Known GenesGNAS-AS1
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)essv5306910
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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