A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987081



Internal ID12974119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:157671832..158135832hg38UCSC Ensembl
Innerchr7:157464524..157928524hg19UCSC Ensembl
Innerchr7:157157285..157621285hg18UCSC Ensembl
Innerchr7:156964000..157428000hg17UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38464001
hg19464001
hg18464001
hg17464001
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987081
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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