A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723883



Internal ID10307519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:225514924..225519206hg38UCSC Ensembl
Outerchr1:225702626..225706908hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg384283
hg194283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6950733, essv6950732
SamplesSSM025
Known GenesENAH
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)esv2723883
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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