A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2493520



Internal ID8557078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:70670705..70672958hg38UCSC Ensembl
Outerchr8:71582940..71585193hg19UCSC Ensembl
Outerchr8:71745494..71747747hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg382254
hg192254
hg182254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5337612
SamplesNA18507
Known GenesXKR9
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)esv2493520
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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