A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5234883



Internal ID8326618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:59597670..59599354hg38UCSC Ensembl
Outerchr13:60171804..60173488hg19UCSC Ensembl
Outerchr13:59069805..59071489hg18UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg381685
hg191685
hg181685
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2483493
Supporting Variants
SamplesNA18507
Known Genes
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)essv5234883
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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