A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729962



Internal ID9964277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1489235..1489428hg38UCSC Ensembl
Outerchr10:1531430..1531623hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6768217, essv6862697
SamplesSSM064, SSM011
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)esv2729962
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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