A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6946617



Internal ID9710665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:180969863..181062721hg38UCSC Ensembl
Outerchr1:180938999..181031857hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3892859
hg1992859
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719940
Supporting Variants
SamplesSSM024
Known GenesMR1, STX6
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)essv6946617
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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