A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988638



Internal ID12628297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76811919..76936433hg38UCSC Ensembl
Innerchr7:76441236..76565750hg19UCSC Ensembl
Innerchr7:76279172..76403686hg18UCSC Ensembl
Innerchr7:76085887..76210401hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38124515
hg19124515
hg18124515
hg17124515
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752184
Supporting Variants
SamplesBEC_555
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988638
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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