A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2558321



Internal ID8621879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:93230637..93232107hg38UCSC Ensembl
Outerchr13:93882890..93884360hg19UCSC Ensembl
Outerchr13:92680891..92682361hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg381471
hg191471
hg181471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5321692
SamplesNA18507
Known GenesGPC6
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)esv2558321
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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