A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1101e201



Internal ID20125988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:81728992..81729285hg38UCSC Ensembl
chr7:81358308..81358601hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38294
hg19294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2734742, esv2734744
SamplesSSM100, SSM027, SSM024, SSM046, SSM011, SSM087, SSM097, SSM088, SSM029, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM014, SSM082, SSM078, SSM080, SSM077
Known GenesHGF
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)dgv1101e201
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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