A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730117



Internal ID9964433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1547541..1547917hg38UCSC Ensembl
Outerchr10:1589736..1590112hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38377
hg19377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6856614, essv6958626, essv6935952, essv6850584, essv6894336, essv6681241, essv6672544
SamplesSSM087, SSM026, SSM003, SSM031, SSM086, SSM033, SSM098
Known GenesADARB2, ADARB2-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)esv2730117
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