A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720339



Internal ID10303975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:186176966..186177235hg38UCSC Ensembl
Outerchr1:186146098..186146367hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6810154, essv6773573
SamplesSSM002, SSM066
Known GenesHMCN1, MIR548F1
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)esv2720339
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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