A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732872



Internal ID9967194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:149983379..149984874hg38UCSC Ensembl
Outerchr6:150304515..150306010hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg381496
hg191496
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6841361, essv6774680, essv6671276, essv6969478, essv6930555, essv6667629, essv6974974, essv6671278, essv6701202
SamplesSSM039, SSM028, SSM084, SSM029, SSM031, SSM066, SSM020, 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)esv2732872
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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