A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5306508



Internal ID8398243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:65059557..65061098hg38UCSC Ensembl
Outerchr14:65526275..65527816hg19UCSC Ensembl
Outerchr14:64596028..64597569hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg381542
hg191542
hg181542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2506970
Supporting Variants
SamplesNA18507
Known GenesCHURC1-FNTB, FNTB, MAX
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)essv5306508
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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