A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746280



Internal ID10327250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:101708621..101713291hg38UCSC Ensembl
Outerchr12:102102399..102107069hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg384671
hg194671
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6716851, essv6720749, essv6970861, essv6737946, essv6673241, essv6891337, essv6827770, essv6931902, essv6936192, essv6806428
SamplesSSM097, SSM050, SSM074, SSM028, SSM021, SSM031, SSM044, SSM020, SSM080, SSM043
Known GenesCHPT1
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)esv2746280
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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