A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745740



Internal ID9980024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:32253934..32254549hg38UCSC Ensembl
Outerchr12:32406868..32407483hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38616
hg19616
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv184e201
Supporting Variantsessv6920191, essv6867166, essv6806392, essv6879501, essv6873692, essv6908887, essv6732137, essv6931852, essv6772053
SamplesSSM065, SSM093, SSM074, SSM047, SSM089, SSM017, SSM014, SSM020, SSM091
Known GenesBICD1
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)esv2745740
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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