A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6906007



Internal ID9638980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1495405..1496161hg38UCSC Ensembl
Outerchr10:1537600..1538356hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38757
hg19757
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2729973
Supporting Variants
SamplesSSM002
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)essv6906007
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