A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6860883



Internal ID10259394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:47312424..47312486hg38UCSC Ensembl
Outerchr6:47280160..47280222hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732037, esv2732035, esv2732036
Supporting Variants
SamplesSSM088
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)essv6860883
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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