A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2654714



Internal ID8718273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:47362618..47363417hg38UCSC Ensembl
Outerchr7:47402216..47403015hg19UCSC Ensembl
Outerchr7:47368741..47369540hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38512
hg19512
hg18512
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5291755
SamplesNA18507
Known GenesTNS3
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)esv2654714
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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