A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981521



Internal ID12625561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:6951259..7730509hg38UCSC Ensembl
Innerchr7:6990890..7770140hg19UCSC Ensembl
Innerchr7:6957415..7736665hg18UCSC Ensembl
Innerchr7:6764130..7543380hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38779251
hg19779251
hg18779251
hg17779251
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752174
Supporting Variants
SamplesBEC_289
Known GenesC1GALT1, COL28A1, LOC100131257, LOC101927354, MIOS, RPA3, RPA3-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981521
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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