A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2454181



Internal ID1484721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:40278600..40279741hg38UCSC Ensembl
Outerchr12:40672402..40673543hg19UCSC Ensembl
Outerchr12:38958669..38959810hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38174
hg19174
hg18174
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5376839
SamplesNA18507
Known GenesLRRK2
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)esv2454181
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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