A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2571611



Internal ID8288483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:57191533..57192263hg38UCSC Ensembl
Outerchr12:57585316..57586046hg19UCSC Ensembl
Outerchr12:55871583..55872313hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38426
hg19426
hg18426
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5267696
SamplesNA18507
Known GenesLRP1
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)esv2571611
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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