A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2476554



Internal ID3319618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:45308232..45309769hg19UCSC Ensembl
Outerchr6:45416210..45417747hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg19192
hg18192
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5268859
SamplesNA18507
Known GenesRUNX2, SUPT3H
Method
Analysis
PlatformAB SOLiD 2BE Sequencing
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2476554
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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