A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730306



Internal ID9964622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1592412..1593129hg38UCSC Ensembl
Outerchr10:1634607..1635324hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38718
hg19718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv79e201
Supporting Variantsessv6799841, essv6830960, essv6830961, essv6890949, essv6887716, essv6702052, essv6698500, essv6834569, essv6887717, essv6879228, essv6724141, essv6727970, essv6799840, essv6702051, essv6724143, essv6900355, essv6809099, essv6882053, essv6775368, essv6935717, essv6897367
SamplesSSM100, SSM075, SSM045, SSM046, SSM038, SSM097, SSM039, SSM093, SSM021, SSM096, SSM094, SSM066, SSM081, SSM072, SSM082, SSM099
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)esv2730306
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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