A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731821



Internal ID9966139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31354255..31382124hg38UCSC Ensembl
Outerchr6:31322032..31349901hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3827870
hg1927870
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6734314, essv6728387, essv6743116, essv6849071, essv6887744, essv6960274, essv6822408, essv6790470, essv6727075, essv6782140, essv6841218, essv6680355, essv6947754, essv6825643, essv6865545, essv6694117, essv6680348, essv6855167, essv6826338, essv6896756
SamplesSSM024, SSM046, SSM079, SSM087, SSM084, SSM089, SSM086, SSM033, SSM068, SSM007, SSM053, SSM080, SSM037, SSM010, SSM070, SSM004, SSM099, SSM049, SSM012
Known GenesHLA-B, MIR6891
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)esv2731821
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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