A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746019



Internal ID9980303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:69664981..69665258hg38UCSC Ensembl
Outerchr12:70058761..70059038hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6796070, essv6812247, essv6867204, essv6845977, essv6891316, essv6944988, essv6959314, essv6720719, essv6865976, essv6857250, essv6815495, essv6882345, essv6691635, essv6787790, essv6879525, essv6897679, essv6706247, essv6885109, essv6827733
SamplesSSM036, SSM071, SSM011, SSM087, SSM097, SSM093, SSM023, SSM069, SSM026, SSM089, SSM094, SSM044, SSM085, SSM040, SSM080, SSM077, SSM076, SSM095, SSM099
Known GenesBEST3
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)esv2746019
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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