A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747319



Internal ID10328289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:40008322..40008505hg38UCSC Ensembl
Outerchr1:40473994..40474177hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6871737, essv6703886, essv6917468
SamplesSSM017, SSM040, SSM091
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)esv2747319
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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