A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730262



Internal ID9964578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1592408..1593244hg38UCSC Ensembl
Outerchr10:1634603..1635439hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38837
hg19837
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv79e201
Supporting Variantsessv6948680, essv6791469, essv6799841, essv6823274, essv6866667, essv6935963, essv6830960, essv6830961, essv6827326, essv6890949, essv6887716, essv6908488, essv6702052, essv6698500, essv6834569, essv6887717, essv6705880, essv6965169, essv6850588, essv6705879, essv6894337, essv6850587, essv6908487, essv6879228, essv6827325, essv6724141, essv6894338, essv6923931, essv6779095, essv6731745, essv6731746, essv6948679, essv6842085, essv6727970, essv6799840, essv6687995, essv6702051, essv6866668, essv6724143, essv6900355, essv6809099, essv6882053, essv6838278, essv6791470, essv6775368, essv6716402, essv6935717, essv6897367
SamplesSSM100, SSM083, SSM027, SSM024, SSM075, SSM045, SSM046, SSM079, SSM038, SSM097, SSM039, SSM093, SSM084, SSM021, SSM047, SSM018, SSM096, SSM089, SSM035, SSM094, SSM003, SSM067, SSM014, SSM086, SSM066, SSM081, SSM040, SSM072, SSM082, SSM080, SSM070, SSM099, SSM043, SSM098
Known GenesADARB2
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)esv2730262
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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