A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732293



Internal ID10315929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:73446364..73446968hg38UCSC Ensembl
Outerchr6:74156087..74156691hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38605
hg19605
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6762673, essv6761398, essv6704142, essv6736995, essv6974853, essv6947846, essv6760073, essv6961651, essv6734392, essv6934777
SamplesSSM008, SSM024, SSM050, SSM021, SSM061, SSM029, SSM062, SSM006, SSM004, SSM049
Known GenesMB21D1
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)esv2732293
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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