A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752162



Internal ID12985714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:57408458..57860274hg38UCSC Ensembl
Innerchr7:57476164..57919980hg19UCSC Ensembl
Innerchr7:57480106..57923922hg18UCSC Ensembl
Innerchr7:57286821..57730637hg17UCSC Ensembl
Cytoband7p11.1
Allele length
AssemblyAllele length
hg38451817
hg19443817
hg18443817
hg17443817
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985492, essv6981144, essv6981143, essv6981145
SamplesBEC_358
Known GenesZNF716
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)esv2752162
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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