A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981906



Internal ID12974127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:157660162..158010644hg38UCSC Ensembl
Innerchr7:157452854..157803336hg19UCSC Ensembl
Innerchr7:157145615..157496097hg18UCSC Ensembl
Innerchr7:156952330..157302812hg17UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38350483
hg19350483
hg18350483
hg17350483
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752150
Supporting Variants
SamplesBEC_500
Known GenesLOC100506585, PTPRN2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981906
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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