A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978497



Internal ID12635394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247712113..248116182hg38UCSC Ensembl
Innerchr1:247875415..248279484hg19UCSC Ensembl
Innerchr1:245942038..246346107hg18UCSC Ensembl
Innerchr1:244201456..244605525hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38404070
hg19404070
hg18404070
hg17404070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34503
Supporting Variants
SamplesNA19127
Known GenesOR11L1, OR14A16, OR1C1, OR2AK2, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2T8, OR2W3, OR6F1, TRIM58
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978497
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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