A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2513283



Internal ID8576841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:45431031..45432483hg38UCSC Ensembl
Outerchr10:45926479..45927931hg19UCSC Ensembl
Outerchr10:45246485..45247937hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg381453
hg191453
hg181453
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5265959
SamplesNA18507
Known GenesALOX5
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)esv2513283
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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