A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6836386



Internal ID9889730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246864592..246864875hg38UCSC Ensembl
Outerchr1:247027894..247028177hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727607
Supporting Variants
SamplesSSM083
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)essv6836386
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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