A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982965



Internal ID12974572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:57244336..57770737hg38UCSC Ensembl
Innerchr7:57312043..57830443hg19UCSC Ensembl
Innerchr7:57315985..57834385hg18UCSC Ensembl
Innerchr7:57122700..57641100hg17UCSC Ensembl
Cytoband7p11.1
Allele length
AssemblyAllele length
hg38526402
hg19518401
hg18518401
hg17518401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752161
Supporting Variants
SamplesBEC_529
Known GenesMIR3147, ZNF716
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982965
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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