A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2653947



Internal ID8370819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:86804268..86805739hg38UCSC Ensembl
Outerchr4:87725421..87726892hg19UCSC Ensembl
Outerchr4:87944445..87945916hg18UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg381472
hg191472
hg181472
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5183879
SamplesNA18507
Known GenesPTPN13
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)esv2653947
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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