A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747698



Internal ID10328668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:78019997..78020344hg38UCSC Ensembl
Outerchr13:78594132..78594479hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6966098, essv6888134, essv6792030, essv6688430, essv6720863, essv6882468, essv6862604, essv6909056, essv6851491, essv6787945, essv6800401, essv6815614, essv6728499, essv6713163, essv6867388, essv6838791, essv6949269, essv6857494, essv6891434, essv6702639
SamplesSSM083, SSM027, SSM024, SSM046, SSM087, SSM097, SSM039, SSM042, SSM088, SSM069, SSM096, SSM089, SSM035, SSM094, SSM044, SSM014, SSM086, SSM072, SSM077, SSM070
Known GenesLINC00446
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)esv2747698
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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