A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747356



Internal ID9981640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:46145597..46145937hg38UCSC Ensembl
Outerchr13:46719732..46720072hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6815588, essv6912762, essv6851448, essv6959524, essv6932009, essv6728472
SamplesSSM046, SSM026, SSM086, SSM020, SSM015, SSM077
Known GenesLCP1
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)esv2747356
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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