A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745641



Internal ID10326611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:25807980..25808578hg38UCSC Ensembl
Outerchr1:26134471..26135069hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38599
hg19599
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv14e201
Supporting Variantsessv6797461, essv6748542, essv6699603, essv6933320, essv6729636, essv6780885, essv6853254, essv6714257, essv6967944, essv6682838, essv6902550, essv6954763, essv6910060, essv6710601, essv6916830, essv6785004, essv6824992, essv6675211, essv6906106, essv6829023, essv6776947, essv6921738, essv6917447, essv6929067, essv6668972, essv6692782, essv6821195, essv6773447, essv6703871, essv6941798, essv6950576, essv6789165, essv6946511, essv6843901, essv6839986, essv6801626, essv6937692
SamplesSSM008, SSM024, SSM079, SSM087, SSM039, SSM013, SSM073, SSM042, SSM023, SSM028, SSM084, SSM021, SSM047, SSM018, SSM069, SSM026, SSM017, SSM032, SSM003, SSM031, SSM067, SSM014, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM020, SSM015, SSM080, SSM037, SSM022, SSM070, SSM025, SSM034, SSM043
Known GenesSEPN1
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)esv2745641
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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