A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5340506



Internal ID8085555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:15349811..15350801hg38UCSC Ensembl
Outerchr4:15351435..15352425hg19UCSC Ensembl
Outerchr4:14960533..14961523hg18UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg38187
hg19187
hg18187
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2623009
Supporting Variants
SamplesNA18507
Known GenesC1QTNF7
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)essv5340506
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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