A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2639320



Internal ID8356192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3260501..3261145hg38UCSC Ensembl
Outerchr1:3177065..3177709hg19UCSC Ensembl
Outerchr1:3166925..3167569hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38681
hg19681
hg18681
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5229663
SamplesNA18507
Known GenesPRDM16
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)esv2639320
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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