A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2635754



Internal ID8699312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:58209819..58211165hg38UCSC Ensembl
Outerchr8:59122378..59123724hg19UCSC Ensembl
Outerchr8:59284932..59286278hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381347
hg191347
hg181347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5176795
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)esv2635754
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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