A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988763



Internal ID12977769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:91040861..91486761hg38UCSC Ensembl
Innerchr6:91750579..92196479hg19UCSC Ensembl
Innerchr6:91807300..92253200hg18UCSC Ensembl
Innerchr6:91807300..92253200hg17UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38445901
hg19445901
hg18445901
hg17445901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752130
Supporting Variants
SamplesBEC_789
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988763
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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