A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2554143



Internal ID3355944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:12026165..12028186hg19UCSC Ensembl
Outerchr12:11917432..11919453hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg19692
hg18692
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5273427
SamplesNA18507
Known GenesETV6
Method
Analysis
PlatformAB SOLiD 2BE Sequencing
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2554143
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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