A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731798



Internal ID9966116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:30705222..30705570hg38UCSC Ensembl
Outerchr6:30672999..30673347hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6704937, essv6723173, essv6727062
SamplesSSM045, SSM046, SSM040
Known GenesMDC1
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)esv2731798
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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