A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730173



Internal ID9964489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1558311..1558834hg38UCSC Ensembl
Outerchr10:1600506..1601029hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6827324, essv6691282, essv6775366, essv6944498, essv6823273, essv6771710, essv6834568
SamplesSSM036, SSM079, SSM065, SSM023, SSM066, SSM082, SSM080
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)esv2730173
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer