A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5333352



Internal ID8425087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:73515246..73516947hg38UCSC Ensembl
Outerchr14:73981950..73983651hg19UCSC Ensembl
Outerchr14:73051703..73053404hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381702
hg191702
hg181702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2561778
Supporting Variants
SamplesNA18507
Known GenesHEATR4
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)essv5333352
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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