A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751810



Internal ID12638676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6951556..7083618hg38UCSC Ensembl
Innerchr19:6951567..7083629hg19UCSC Ensembl
Innerchr19:6902567..7034629hg18UCSC Ensembl
Innerchr19:6902567..7034629hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38132063
hg19132063
hg18132063
hg17132063
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981131, essv6981132
SamplesBEC_355
Known GenesEMR4P, FLJ25758, MBD3L2, MBD3L3, MBD3L4, MBD3L5, ZNF557
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)esv2751810
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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