A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751125



Internal ID12984677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:85491080..85704462hg38UCSC Ensembl
Innerchr12:85884858..86098240hg19UCSC Ensembl
Innerchr12:84408989..84622371hg18UCSC Ensembl
Innerchr12:84387326..84600708hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38213383
hg19213383
hg18213383
hg17213383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989742, essv6983143, essv6983142
SamplesBEC_547
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751125
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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