A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746520



Internal ID9980804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:124311035..124311708hg38UCSC Ensembl
Outerchr12:124795581..124796254hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38674
hg19674
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6819793, essv6744086, essv6713062, essv6737964, essv6977341, essv6959383
SamplesSSM053, SSM042, SSM078, SSM050, SSM029, SSM026
Known GenesFAM101A, ZNF664-FAM101A
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)esv2746520
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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