A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6750736



Internal ID10161529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:210533011..210533637hg38UCSC Ensembl
Outerchr1:210706355..210706981hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38627
hg19627
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722328
Supporting Variants
SamplesSSM057
Known GenesHHAT
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)essv6750736
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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