A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988387



Internal ID12973173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101294284..101492284hg38UCSC Ensembl
Innerchr7:100937565..101135565hg19UCSC Ensembl
Innerchr7:100724285..100922285hg18UCSC Ensembl
Innerchr7:100531000..100729000hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38198001
hg19198001
hg18198001
hg17198001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752135
Supporting Variants
SamplesBEC_385
Known GenesCOL26A1, RABL5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988387
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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