A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731801



Internal ID9966119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31026257..31027313hg38UCSC Ensembl
Outerchr6:30994034..30995090hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg381057
hg191057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6790471, essv6878579, essv6711792, essv6778124
SamplesSSM093, SSM042, SSM067, SSM070
Known GenesMUC22
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)esv2731801
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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