A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5204481



Internal ID8296216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:72768754..72770130hg38UCSC Ensembl
Outerchr13:73342892..73344268hg19UCSC Ensembl
Outerchr13:72240893..72242269hg18UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg381377
hg191377
hg181377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2626867
Supporting Variants
SamplesNA18507
Known GenesDIS3
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)essv5204481
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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