A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987398



Internal ID12982000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7306019..7387809hg38UCSC Ensembl
Innerchr7:7345650..7427440hg19UCSC Ensembl
Innerchr7:7312175..7393965hg18UCSC Ensembl
Innerchr7:7118890..7200680hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3881791
hg1981791
hg1881791
hg1781791
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34328
Supporting Variants
SamplesNA19100
Known GenesCOL28A1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987398
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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