A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732861



Internal ID9967183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:149681836..149764933hg38UCSC Ensembl
Outerchr6:150002972..150086069hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3883098
hg1983098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6929651, essv6740079, essv6737044, essv6734439, essv6915150, essv6757483, essv6943548, essv6943549, essv6888822, essv6690573, essv6762715, essv6760129, essv6762716, essv6761875, essv6760130, essv6684092, essv6875826, essv6743259, essv6826876, essv6896850
SamplesSSM059, SSM036, SSM008, SSM050, SSM023, SSM092, SSM061, SSM062, SSM003, SSM016, SSM053, SSM010, SSM034, SSM099, SSM052, SSM049, SSM012
Known GenesLATS1, NUP43, PCMT1
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)esv2732861
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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