A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6683012



Internal ID9753390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246864596..246864882hg38UCSC Ensembl
Outerchr1:247027898..247028184hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727607
Supporting Variants
SamplesSSM034
Known GenesAHCTF1
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)essv6683012
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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