A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732094



Internal ID10315730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:53172754..53173310hg38UCSC Ensembl
Outerchr6:53037552..53038108hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38557
hg19557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6690484, essv6748763, essv6774612, essv6961429, essv6667578, essv6911362, essv6939036, essv6739986, essv6963763, essv6928818, essv6855255
SamplesSSM036, SSM027, SSM087, SSM003, SSM066, SSM015, SSM022, SSM004, SSM052, SSM056, SSM030
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)esv2732094
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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