A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984584



Internal ID12630523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:56491498..57259436hg38UCSC Ensembl
Innerchr7:56559191..57327143hg19UCSC Ensembl
Innerchr7:56526685..57331085hg18UCSC Ensembl
Innerchr7:56333400..57137800hg17UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38767939
hg19767953
hg18804401
hg17804401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752160
Supporting Variants
SamplesBEC_720
Known GenesDKFZp434L192, GUSBP10, LOC100130849, LOC101928401, MIR4283-1, MIR4283-2, ZNF479
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984584
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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