A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2535297



Internal ID8252169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:96348919..96350372hg38UCSC Ensembl
Outerchr13:97001173..97002626hg19UCSC Ensembl
Outerchr13:95799174..95800627hg18UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg381454
hg191454
hg181454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5285444
SamplesNA18507
Known GenesHS6ST3
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)esv2535297
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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