A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984123



Internal ID12977724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14704695..15102422hg38UCSC Ensembl
Innerchr18:14704694..15102421hg19UCSC Ensembl
Innerchr18:14694694..15092421hg18UCSC Ensembl
Innerchr18:14694694..15092421hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38397728
hg19397728
hg18397728
hg17397728
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751771
Supporting Variants
SamplesBEC_779
Known GenesANKRD30B, LOC400644, MIR3156-2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984123
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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