A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2569136



Internal ID8286008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:99101108..99102760hg38UCSC Ensembl
Outerchr4:100022259..100023911hg19UCSC Ensembl
Outerchr4:100241282..100242934hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg381653
hg191653
hg181653
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5193554
SamplesNA18507
Known GenesLOC100507053
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)esv2569136
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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