A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5e201



Internal ID22759363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7903109..7903426hg38UCSC Ensembl
chr1:7963169..7963486hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2741974, esv2740757, esv2743430, esv2741890, esv2742007
SamplesSSM075, SSM089, SSM031, SSM072, SSM080, SSM076
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)dgv5e201
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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