A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979804



Internal ID12634103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:237851511..238549366hg38UCSC Ensembl
Innerchr1:238014811..238712666hg19UCSC Ensembl
Innerchr1:236081434..236779289hg18UCSC Ensembl
Innerchr1:234340852..235038707hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38697856
hg19697856
hg18697856
hg17697856
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979804
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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