A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745645



Internal ID9979929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:24307462..24307743hg38UCSC Ensembl
Outerchr12:24460396..24460677hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38282
hg19282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv178e201
Supporting Variantsessv6959257, essv6677809, essv6851171, essv6965767, essv6862373, essv6673144, essv6977176, essv6702448, essv6867151, essv6698749, essv6779456, essv6908872, essv6819683, essv6787752, essv6857190
SamplesSSM027, SSM087, SSM038, SSM039, SSM088, SSM069, SSM029, SSM026, SSM089, SSM032, SSM031, SSM067, SSM014, SSM086, SSM078
Known GenesSOX5
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)esv2745645
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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