A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2506970



Internal ID8570528
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 StatusM
Merged Variants
Supporting Variantsessv5306508
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)esv2506970
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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