A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2579637



Internal ID8296509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:68925538..68926275hg38UCSC Ensembl
Outerchr10:70685294..70686031hg19UCSC Ensembl
Outerchr10:70355300..70356037hg18UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38548
hg19548
hg18548
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5305033
SamplesNA18507
Known GenesDDX50
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)esv2579637
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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