A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989024



Internal ID12981980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7306019..7369669hg38UCSC Ensembl
Innerchr7:7345650..7409300hg19UCSC Ensembl
Innerchr7:7312175..7375825hg18UCSC Ensembl
Innerchr7:7118890..7182540hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3863651
hg1963651
hg1863651
hg1763651
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)essv6989024
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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