A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732865



Internal ID9967187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:149762602..149763390hg38UCSC Ensembl
Outerchr6:150083738..150084526hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38789
hg19789
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1023e201
Supporting Variantsessv6737044, essv6734439, essv6757483, essv6943549, essv6888822, essv6690573, essv6762716, essv6684092, essv6743259, essv6896850
SamplesSSM059, SSM036, SSM050, SSM023, SSM062, SSM053, SSM034, SSM099, SSM049, SSM012
Known GenesPCMT1
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)esv2732865
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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