A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2481557



Internal ID3428270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:129736141..129737677hg19UCSC Ensembl
Outerchr6:129777834..129779370hg18UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg19351
hg18351
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5323805
SamplesNA18507
Known GenesLAMA2
Method
Analysis
PlatformAB SOLiD 2BE Sequencing
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2481557
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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