A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730473



Internal ID9964789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1671824..1672312hg38UCSC Ensembl
Outerchr10:1714018..1714506hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38489
hg19489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6931437, essv6799843, essv6958633, essv6779096, essv6970391, essv6677453, essv6952839, essv6702053, essv6791471, essv6783163
SamplesSSM025, SSM072, SSM020, SSM032, SSM039, SSM067, SSM028, SSM068, SSM026, SSM070
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)esv2730473
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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