A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5226848



Internal ID7971897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:31649510..31650421hg38UCSC Ensembl
Outerchr12:31802444..31803355hg19UCSC Ensembl
Outerchr12:31693711..31694622hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38334
hg19334
hg18334
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2495218
Supporting Variants
SamplesNA18507
Known GenesMETTL20
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)essv5226848
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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