A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986303



Internal ID12629044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:148412699..149248978hg38UCSC Ensembl
Innerchr2:149170268..150105492hg19UCSC Ensembl
Innerchr2:148886738..149813738hg18UCSC Ensembl
Innerchr2:149004000..149931000hg17UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38836280
hg19935225
hg18927001
hg17927001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751831
Supporting Variants
SamplesBEC_608
Known GenesEPC2, KIF5C, LYPD6B, MBD5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986303
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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