A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982408



Internal ID12973685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:48644005..48702898hg38UCSC Ensembl
Innerchr6:48611741..48670641hg19UCSC Ensembl
Innerchr6:48719700..48778600hg18UCSC Ensembl
Innerchr6:48719700..48778600hg17UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3858894
hg1958901
hg1858901
hg1758901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752125
Supporting Variants
SamplesBEC_437
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982408
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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