A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732556



Internal ID10316192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:108031201..108031469hg38UCSC Ensembl
Outerchr6:108352405..108352673hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6957130, essv6961962, essv6818324, essv6751658, essv6934810, essv6729564, essv6918912
SamplesSSM057, SSM021, SSM026, SSM017, SSM007, SSM078, SSM004
Known Genes
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)esv2732556
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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