A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585708



Internal ID347287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:32478088..32489931hg38UCSC Ensembl
Outerchr10:32477136..32493273hg38UCSC Ensembl
Innerchr10:32767016..32778859hg19UCSC Ensembl
Outerchr10:32766064..32782201hg19UCSC Ensembl
Innerchr10:32807022..32818865hg18UCSC Ensembl
Outerchr10:32806070..32822207hg18UCSC Ensembl
Cytoband10p11.22
Allele length
AssemblyAllele length
hg3816138
hg1916138
hg1816138
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275237
Supporting Variants
Samples
Known GenesCCDC7
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585708
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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