A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746837



Internal ID10327807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:131331976..131332744hg38UCSC Ensembl
Outerchr12:131816521..131817289hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38769
hg19769
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6787848, essv6681672, essv6851360, essv6940442, essv6791945, essv6972095, essv6945060, essv6775799, essv6768577, essv6806721, essv6673309, essv6716897, essv6965947, essv6936250, essv6827818, essv6846025, essv6702555, essv6970918, essv6949183, essv6842530, essv6800320, essv6773176, essv6857358, essv6741162, essv6912703, essv6831395, essv6772145, essv6959431, essv6709591, essv6728427, essv6698824, essv6691690, essv6823727, essv6928008
SamplesSSM036, SSM008, SSM027, SSM024, SSM046, SSM064, SSM079, SSM065, SSM087, SSM038, SSM039, SSM009, SSM041, SSM023, SSM028, SSM084, SSM021, SSM069, SSM026, SSM019, SSM031, SSM086, SSM033, SSM066, SSM085, SSM081, SSM072, SSM015, SSM080, SSM022, SSM070, SSM004, SSM043, SSM052
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)esv2746837
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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