A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721362



Internal ID9955658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:200910695..200911686hg38UCSC Ensembl
Outerchr1:200879823..200880814hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38992
hg19992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847259, essv6793453, essv6972624, essv6921890, essv6929216, essv6813300, essv6950702, essv6910202, essv6797609, essv6941963, essv6699764, essv6749909, essv6666985, essv6954985, essv6968093, essv6853463
SamplesSSM086, SSM025, SSM072, SSM020, SSM071, SSM039, SSM077, SSM028, SSM029, SSM030, SSM087, SSM023, SSM015, SSM026, SSM008, SSM018
Known GenesC1orf106
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)esv2721362
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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