A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720082



Internal ID9954378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:54907434..54908192hg38UCSC Ensembl
Outerchr2:55134571..55135329hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38759
hg19759
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6938002, essv6704129, essv6785337, essv6972909, essv6844143, essv6929419, essv6683091, essv6787154, essv6942163, essv6759293, essv6922065, essv6699957
SamplesSSM039, SSM009, SSM023, SSM018, SSM069, SSM061, SSM029, SSM085, SSM040, SSM020, SSM022, SSM034
Known GenesEML6
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)esv2720082
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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