A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980446



Internal ID12982451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152699437..152753153hg38UCSC Ensembl
Innerchr1:152671913..152725629hg19UCSC Ensembl
Innerchr1:150938537..150992253hg18UCSC Ensembl
Innerchr1:149484986..149538702hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3853717
hg1953717
hg1853717
hg1753717
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34854
Supporting Variants
SamplesNA19193
Known GenesC1orf68, LCE2A, LCE4A
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980446
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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