A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5251560



Internal ID7996609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:77237349..77238865hg38UCSC Ensembl
Outerchr5:76533174..76534690hg19UCSC Ensembl
Outerchr5:76568930..76570446hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg381517
hg191517
hg181517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2640816
Supporting Variants
SamplesNA18507
Known GenesPDE8B
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)essv5251560
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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