A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978442



Internal ID12981974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7306019..7371357hg38UCSC Ensembl
Innerchr7:7345650..7410988hg19UCSC Ensembl
Innerchr7:7312175..7377513hg18UCSC Ensembl
Innerchr7:7118890..7184228hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3865339
hg1965339
hg1865339
hg1765339
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34490
Supporting Variants
SamplesNA19099
Known GenesCOL28A1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978442
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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