A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730095



Internal ID9964411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1541780..1542777hg38UCSC Ensembl
Outerchr10:1583975..1584972hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38998
hg19998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv78e201
Supporting Variantsessv6897366, essv6906029, essv6882052, essv6923928, essv6735543
SamplesSSM002, SSM018, SSM094, SSM007, SSM099
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)esv2730095
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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