A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5279934



Internal ID8371669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:22116493..22117766hg38UCSC Ensembl
Outerchr12:22269427..22270700hg19UCSC Ensembl
Outerchr12:22160694..22161967hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381274
hg191274
hg181274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2455107
Supporting Variants
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)essv5279934
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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