A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981842



Internal ID12627315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:52748261..52766390hg38UCSC Ensembl
Innerchr6:52613059..52631188hg19UCSC Ensembl
Innerchr6:52721018..52739147hg18UCSC Ensembl
Innerchr6:52721018..52739147hg17UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3818130
hg1918130
hg1818130
hg1718130
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752126
Supporting Variants
SamplesBEC_492
Known GenesGSTA2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981842
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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