A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734639



Internal ID9968967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:27706600..27707472hg38UCSC Ensembl
Outerchr10:27995529..27996401hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38873
hg19873
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6866729, essv6700376, essv6819293
SamplesSSM078, SSM089, SSM001
Known GenesMKX
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)esv2734639
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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