A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732834



Internal ID10316470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:146787418..146788147hg38UCSC Ensembl
Outerchr6:147108554..147109283hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38730
hg19730
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6690572, essv6715637, essv6684091, essv6798974, essv6802656, essv6708532, essv6826523, essv6814426, essv6671273, essv6923173, essv6701198, essv6939122, essv6903816, essv6974966, essv6822537, essv6694269, essv6957181, essv6740075, essv6774677
SamplesSSM036, SSM079, SSM039, SSM013, SSM073, SSM041, SSM018, SSM029, SSM026, SSM031, SSM066, SSM072, SSM080, SSM037, SSM077, SSM022, SSM034, SSM043, SSM052
Known GenesADGB
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)esv2732834
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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