A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746496



Internal ID9980780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:121851589..121852072hg38UCSC Ensembl
Outerchr12:122289495..122289978hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38484
hg19484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6876728, essv6909152, essv6739109, essv6737962, essv6711576, essv6727820, essv6970885, essv6681648, essv6900055, essv6735254, essv6732197, essv6763451, essv6857321, essv6749744, essv6806421, essv6668249, essv6741139, essv6835465, essv6936216, essv6761041, essv6912680, essv6752632, essv6819788
SamplesSSM087, SSM009, SSM050, SSM002, SSM057, SSM028, SSM092, SSM021, SSM047, SSM061, SSM062, SSM001, SSM033, SSM006, SSM007, SSM015, SSM078, SSM010, SSM052, SSM049, SSM056, SSM030, SSM012
Known GenesHPD
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)esv2746496
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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