A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2498157



Internal ID8561716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:95839062..95843031hg38UCSC Ensembl
Outerchr12:96232840..96236809hg19UCSC Ensembl
Outerchr12:94756971..94760940hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg383970
hg193970
hg183970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5247272
SamplesNA18507
Known Genes
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)esv2498157
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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