A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6700183



Internal ID9767893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:10355791..10356126hg38UCSC Ensembl
Outerchr3:10397475..10397810hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724892, esv2724897, esv2724895
Supporting Variants
SamplesSSM039
Known GenesATP2B2
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)essv6700183
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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