A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749129



Internal ID9983413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:64350222..64355710hg38UCSC Ensembl
Outerchr1:64815905..64821393hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg385489
hg195489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6954815, essv6929115
SamplesSSM026, 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)esv2749129
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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