A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2430078



Internal ID8493636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:91658121..91659021hg38UCSC Ensembl
Outerchr14:92124465..92125365hg19UCSC Ensembl
Outerchr14:91194218..91195118hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38322
hg19322
hg18322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5245912
SamplesNA18507
Known GenesCATSPERB
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)esv2430078
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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