A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731992



Internal ID10315628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:43067579..43068063hg38UCSC Ensembl
Outerchr6:43035317..43035801hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38485
hg19485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6748756, essv6795643, essv6743184, essv6765028, essv6715539, essv6974790, essv6826165, essv6754551, essv6761076, essv6884249, essv6680406
SamplesSSM008, SSM009, SSM058, SSM029, SSM033, SSM053, SSM010, SSM095, SSM043, SSM056, SSM063
Known GenesKLC4
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)esv2731992
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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