A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714795



Internal ID3265291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:91766419..91767794hg38UCSC Ensembl
Outerchr1:92231976..92233351hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381376
hg191376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6714309, essv6777001, essv6682885, essv6898665, essv6785070, essv6906168, essv6871770, essv6892392, essv6925759, essv6793367, essv6832664, essv6889071, essv6669071, essv6829073, essv6836256, essv6840038, essv6785220, essv6910121
SamplesSSM082, SSM091, SSM084, SSM043, SSM031, SSM071, SSM067, SSM083, SSM097, SSM100, SSM009, SSM069, SSM034, SSM019, SSM015, SSM014, SSM098, SSM081
Known GenesTGFBR3
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)esv2714795
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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