A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733017



Internal ID10316653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:11885230..11885743hg38UCSC Ensembl
Outerchr10:11927229..11927742hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38514
hg19514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672597, essv6815160, essv6894364, essv6779127, essv6716436, essv6842115, essv6970424, essv6705903, essv6712712, essv6866705, essv6927644, essv6795679, essv6952876, essv6775397
SamplesSSM071, SSM042, SSM028, SSM084, SSM089, SSM019, SSM031, SSM067, SSM066, SSM040, SSM077, SSM025, SSM043, SSM098
Known GenesPROSER2-AS1
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)esv2733017
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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