A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751771



Internal ID12985323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14704695..15106728hg38UCSC Ensembl
Innerchr18:14704694..15106727hg19UCSC Ensembl
Innerchr18:14694694..15096727hg18UCSC Ensembl
Innerchr18:14694694..15096727hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38402034
hg19402034
hg18402034
hg17402034
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984123, essv6984124
SamplesBEC_779
Known GenesANKRD30B, LOC400644, MIR3156-2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751771
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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