A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2713963



Internal ID10297599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:82046205..82046421hg38UCSC Ensembl
Outerchr1:82511889..82512105hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38217
hg19217
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6699660, essv6722056, essv6793357, essv6972461, essv6669048, essv6675260, essv6829060, essv6785055, essv6954843, essv6729680, essv6929130, essv6836243
SamplesSSM083, SSM071, SSM045, SSM039, SSM047, SSM069, SSM029, SSM026, SSM032, SSM031, SSM081, SSM020
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)esv2713963
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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