A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5254052



Internal ID8345787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:6329446..6331868hg38UCSC Ensembl
Outerchr19:6329457..6331879hg19UCSC Ensembl
Outerchr19:6280457..6282879hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382423
hg192423
hg182423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2629784
Supporting Variants
SamplesNA18507
Known GenesACER1
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)essv5254052
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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