A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745389



Internal ID9979673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1256398..1257271hg38UCSC Ensembl
Outerchr12:1365564..1366437hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38874
hg19874
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6746805, essv6900607, essv6735141, essv6965709, essv6749644, essv6771442, essv6959191, essv6834543, essv6862322, essv6728285, essv6688244, essv6677769, essv6857129, essv6879450, essv6752535, essv6898810, essv6806344, essv6717709, essv6876624, essv6842389
SamplesSSM010, SSM027, SSM092, SSM055, SSM084, SSM088, SSM035, SSM057, SSM001, SSM032, SSM012, SSM093, SSM100, SSM056, SSM087, SSM046, SSM074, SSM026, SSM049, SSM008
Known GenesERC1
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)esv2745389
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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