A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5163794



Internal ID8255529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:29258161..29259980hg38UCSC Ensembl
Outerchr14:29727367..29729186hg19UCSC Ensembl
Outerchr14:28797118..28798937hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg381820
hg191820
hg181820
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2467200
Supporting Variants
SamplesNA18507
Known Genes
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)essv5163794
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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