A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731823



Internal ID10315459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31453738..31456742hg38UCSC Ensembl
Outerchr6:31421515..31424519hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg383005
hg193005
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6730853, essv6715483, essv6739953, essv6778134, essv6947757, essv6899655, essv6703377, essv6774566, essv6677999, essv6704953, essv6818174
SamplesSSM100, SSM024, SSM047, SSM067, SSM066, SSM006, SSM040, SSM078, SSM005, SSM043, SSM052
Known Genes
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)esv2731823
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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