A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6745083



Internal ID9809041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:227571754..227572101hg38UCSC Ensembl
Outerchr1:227759455..227759802hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724195
Supporting Variants
SamplesSSM055
Known GenesZNF678
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)essv6745083
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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