A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5293788



Internal ID8385523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:34202639..34209330hg38UCSC Ensembl
Outerchr12:34355574..34362265hg19UCSC Ensembl
Outerchr12:34246841..34253532hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg386692
hg196692
hg186692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2443942
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)essv5293788
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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