A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5277194



Internal ID8368929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:100868800..100870955hg38UCSC Ensembl
Outerchr14:101335137..101337292hg19UCSC Ensembl
Outerchr14:100404890..100407045hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg382156
hg192156
hg182156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2456141
Supporting Variants
SamplesNA18507
Known GenesMIR493
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)essv5277194
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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