A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982201



Internal ID12626647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7730023..8138059hg38UCSC Ensembl
Innerchr7:7769654..8177689hg19UCSC Ensembl
Innerchr7:7736179..8144214hg18UCSC Ensembl
Innerchr7:7542894..7950929hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38408037
hg19408036
hg18408036
hg17408036
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752177
Supporting Variants
SamplesBEC_401
Known GenesGLCCI1, ICA1, RPA3-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982201
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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