A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725258



Internal ID10308894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:50405847..50407353hg38UCSC Ensembl
Outerchr3:50443278..50444784hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381507
hg191507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6872140, essv6807817, essv6889496, essv6810726, essv6718667, essv6673188, essv6954707, essv6793869, essv6968553, essv6777474, essv6739312, essv6892807, essv6821704, essv6707745, essv6802026, essv6762171, essv6689750, essv6955716, essv6910609, essv6878056, essv6833089, essv6973412, essv6748183, essv6669867, essv6951132, essv6798044, essv6896228, essv6730139, essv6917998, essv6892806, essv6804845, essv6840513
SamplesSSM036, SSM071, SSM075, SSM079, SSM097, SSM073, SSM093, SSM074, SSM041, SSM028, SSM084, SSM047, SSM029, SSM062, SSM026, SSM017, SSM031, SSM067, SSM044, SSM072, SSM082, SSM015, SSM005, SSM076, SSM091, SSM025, SSM004, SSM099, SSM052, SSM098, SSM056
Known GenesCACNA2D2
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)esv2725258
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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