A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986949



Internal ID12634112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:237849470..238562462hg38UCSC Ensembl
Innerchr1:238012770..238725762hg19UCSC Ensembl
Innerchr1:236079393..236792385hg18UCSC Ensembl
Innerchr1:234338811..235051803hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38712993
hg19712993
hg18712993
hg17712993
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)essv6986949
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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