A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2454597



Internal ID8518155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:34394903..34396504hg38UCSC Ensembl
Outerchr10:34683831..34685432hg19UCSC Ensembl
Outerchr10:34723837..34725438hg18UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg381602
hg191602
hg181602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5351283
SamplesNA18507
Known GenesPARD3
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)esv2454597
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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