A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5310984



Internal ID8056033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:220575504..220576561hg38UCSC Ensembl
Outerchr1:220748846..220749903hg19UCSC Ensembl
Outerchr1:218815469..218816526hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38276
hg19276
hg18276
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2470287
Supporting Variants
SamplesNA18507
Known GenesMARK1
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)essv5310984
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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