A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988607



Internal ID12974570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:57208136..57860237hg38UCSC Ensembl
Innerchr7:57275843..57919943hg19UCSC Ensembl
Innerchr7:57279785..57923885hg18UCSC Ensembl
Innerchr7:57086500..57730600hg17UCSC Ensembl
Cytoband7p11.1
Allele length
AssemblyAllele length
hg38652102
hg19644101
hg18644101
hg17644101
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988607
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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