A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751978



Internal ID12638844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:137996460..138171908hg38UCSC Ensembl
Innerchr3:137715302..137890750hg19UCSC Ensembl
Innerchr3:139197992..139373440hg18UCSC Ensembl
Innerchr3:139198000..139373448hg17UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg38175449
hg19175449
hg18175449
hg17175449
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987963, essv6981468, essv6989241
SamplesBEC_236
Known GenesA4GNT, CLDN18, DBR1, DZIP1L
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)esv2751978
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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