A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2556506



Internal ID3345487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:107412804..107414312hg19UCSC Ensembl
Outerchr7:107200040..107201548hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg19166
hg18166
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5211466
SamplesNA18507
Known GenesSLC26A3
Method
Analysis
PlatformAB SOLiD 2BE Sequencing
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2556506
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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