A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5304803



Internal ID8396538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:143469804..143471110hg38UCSC Ensembl
Outerchr4:144390957..144392263hg19UCSC Ensembl
Outerchr4:144610407..144611713hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg381307
hg191307
hg181307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2576302
Supporting Variants
SamplesNA18507
Known GenesGAB1
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)essv5304803
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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