A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585557



Internal ID347136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:230470345..230470432hg38UCSC Ensembl
Outerchr1:230468064..230478364hg38UCSC Ensembl
Innerchr1:230606091..230606178hg19UCSC Ensembl
Outerchr1:230603810..230614110hg19UCSC Ensembl
Innerchr1:228672714..228672801hg18UCSC Ensembl
Outerchr1:228670433..228680733hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3810301
hg1910301
hg1810301
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv274876
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585557
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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