A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5217n100



Internal ID22791304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:57180758..57237378hg38UCSC Ensembl
chr4:58046924..58103544hg19UCSC Ensembl
chr4:57741681..57798301hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3856621
hg1956621
hg1856621
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1013474, nsv1011854, nsv1001974, nsv1004382, nsv1004986, nsv1014765, nsv1006611, nsv1009681, nsv1012939, nsv1012270, nsv1005784, nsv1008630, nsv1007494, nsv997272, nsv1014384, nsv1001380, nsv1004597, nsv1005980, nsv1013620, nsv1005695, nsv1009297, nsv1005950
Samples
Known GenesIGFBP7-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5217n100
Frequency
Sample Size11257
Observed Gain125
Observed Loss0
Observed Complex0
Frequencyn/a


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