A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5310206



Internal ID8401941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:103899097..103900775hg38UCSC Ensembl
Outerchr12:104292875..104294553hg19UCSC Ensembl
Outerchr12:102817005..102818683hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381679
hg191679
hg181679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2616568
Supporting Variants
SamplesNA18507
Known GenesGNN
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)essv5310206
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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