A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738285



Internal ID10321921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:22057945..22058102hg38UCSC Ensembl
Outerchr9:22057944..22058101hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1254e201
Supporting Variantsessv6850378, essv6894204, essv6856391, essv6931280, essv6927482, essv6716269, essv6694997, essv6684648, essv6705755, essv6698418, essv6723994, essv6845562, essv6887618, essv6684043, essv6948546, essv6915697, essv6803122, essv6831342
SamplesSSM024, SSM045, SSM087, SSM038, SSM073, SSM096, SSM019, SSM086, SSM085, SSM040, SSM020, SSM016, SSM005, SSM037, SSM010, SSM034, SSM043, SSM098
Known GenesCDKN2B-AS1
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)esv2738285
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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