A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731916



Internal ID10315552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:36102129..36102681hg38UCSC Ensembl
Outerchr6:36069906..36070458hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38553
hg19553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6957006, essv6736958, essv6760038
SamplesSSM050, SSM061, SSM026
Known GenesMAPK14
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)esv2731916
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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