A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721123



Internal ID10304759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:170135446..170135809hg38UCSC Ensembl
Outerchr2:170991956..170992319hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38364
hg19364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6962226, essv6686503, essv6700072, essv6847689, essv6707637, essv6877967, essv6785447, essv6869038, essv6817079, essv6892696, essv6889371, essv6730015, essv6669656, essv6807705, essv6675609, essv6946912, essv6902920, essv6689655, essv6825435, essv6718558, essv6789607, essv6804735, essv6859685, essv6864473, essv6883555, essv6697291, essv6836590, essv6683186, essv6813523, essv6722401, essv6973130, essv6880725, essv6929528, essv6726263, essv6955466, essv6906541, essv6829379, essv6898941
SamplesSSM100, SSM036, SSM083, SSM027, SSM024, SSM075, SSM045, SSM046, SSM038, SSM097, SSM039, SSM013, SSM093, SSM074, SSM088, SSM041, SSM090, SSM047, SSM069, SSM029, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM044, SSM014, SSM086, SSM081, SSM020, SSM078, SSM080, SSM077, SSM070, SSM095, SSM034, SSM098
Known Genes
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)esv2721123
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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