A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6954985



Internal ID9717172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:200911027..200911115hg38UCSC Ensembl
Outerchr1:200880155..200880243hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721373, esv2721362, esv2721384
Supporting Variants
SamplesSSM026
Known GenesC1orf106
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)essv6954985
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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