A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv984e201



Internal ID22760342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2468197..2468720hg38UCSC Ensembl
chr6:2468431..2468954hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2741789, esv2743125, esv2741864, esv2741247, esv2742318, esv2741094, esv2742465, esv2740870, esv2741280, esv2742034, esv2743169, esv2741635
SamplesSSM071, SSM024, SSM046, SSM065, SSM042, SSM047, SSM069, SSM086, SSM077, SSM091, SSM025, SSM034
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)dgv984e201
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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