A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752134



Internal ID12639000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101156850..101498586hg38UCSC Ensembl
Innerchr7:100800131..101141867hg19UCSC Ensembl
Innerchr7:100586851..100928587hg18UCSC Ensembl
Innerchr7:100393566..100735302hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38341737
hg19341737
hg18341737
hg17341737
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984089, essv6988753, essv6984088
SamplesBEC_768
Known GenesAP1S1, CLDN15, COL26A1, FIS1, MIR4653, MOGAT3, NAT16, PLOD3, RABL5, VGF, ZNHIT1
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)esv2752134
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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