A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5231581



Internal ID8323316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:28400302..28403974hg38UCSC Ensembl
Outerchr14:28869508..28873180hg19UCSC Ensembl
Outerchr14:27939259..27942931hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg383673
hg193673
hg183673
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2505524
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)essv5231581
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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