A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6917598



Internal ID10028115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:210121983..210122308hg38UCSC Ensembl
Outerchr1:210295328..210295653hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722262
Supporting Variants
SamplesSSM017
Known GenesSYT14
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)essv6917598
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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