A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988413



Internal ID12625557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:6924058..7654288hg38UCSC Ensembl
Innerchr7:6963689..7693919hg19UCSC Ensembl
Innerchr7:6930214..7660444hg18UCSC Ensembl
Innerchr7:6736929..7467159hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38730231
hg19730231
hg18730231
hg17730231
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988413
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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