A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746204



Internal ID10327174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:92727844..92728633hg38UCSC Ensembl
Outerchr12:93121620..93122409hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38790
hg19790
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6761021, essv6857277, essv6862452, essv6908995, essv6834929, essv6920233, essv6912653, essv6953278, essv6916170, essv6737938, essv6940384, essv6851269, essv6772542
SamplesSSM008, SSM087, SSM050, SSM088, SSM002, SSM061, SSM017, SSM086, SSM082, SSM015, SSM016, SSM022, SSM025
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)esv2746204
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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