A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979802



Internal ID12634110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:237849470..238562165hg38UCSC Ensembl
Innerchr1:238012770..238725465hg19UCSC Ensembl
Innerchr1:236079393..236792088hg18UCSC Ensembl
Innerchr1:234338811..235051506hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38712696
hg19712696
hg18712696
hg17712696
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34468
Supporting Variants
SamplesNA18633
Known GenesLINC01139, LOC100130331, ZP4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979802
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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