A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987064



Internal ID12978289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33376398..34606598hg38UCSC Ensembl
Innerchr12:33529333..34759533hg19UCSC Ensembl
Innerchr12:33420600..34650800hg18UCSC Ensembl
Innerchr12:33420600..34650800hg17UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg381230201
hg191230201
hg181230201
hg171230201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34883
Supporting Variants
SamplesNA07357
Known GenesALG10, SYT10
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987064
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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