A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2621974



Internal ID3489044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129737086..129737399hg19UCSC Ensembl
chr6:129778779..129779092hg18UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg19314
hg18314
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5233383
SamplesNA18507
Known GenesLAMA2
Method
Analysis
PlatformAB SOLiD 2BE Sequencing
CommentsoriginalFile=Yoruban_med_del_12_500.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2621974
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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