A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725510



Internal ID10309146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:75968266..75969173hg38UCSC Ensembl
Outerchr3:76017417..76018324hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38908
hg19908
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6903061, essv6762183, essv6742572, essv6902929, essv6723044, essv6726407, essv6875139, essv6926173, essv6933919, essv6906720, essv6733857, essv6810740, essv6751034
SamplesSSM046, SSM013, SSM057, SSM092, SSM021, SSM062, SSM019, SSM001, SSM014, SSM007, SSM053, SSM076, SSM049
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)esv2725510
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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