A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988600



Internal ID12629047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:148412546..149249089hg38UCSC Ensembl
Innerchr2:149170115..150105603hg19UCSC Ensembl
Innerchr2:148886585..149813849hg18UCSC Ensembl
Innerchr2:149003847..149931111hg17UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38836544
hg19935489
hg18927265
hg17927265
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)essv6988600
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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