A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7170n100



Internal ID22793257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39372652..39540213hg38UCSC Ensembl
chr8:39230171..39397732hg19UCSC Ensembl
chr8:39349328..39516889hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38167562
hg19167562
hg18167562
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1025312, nsv1022586, nsv1032631, nsv1031323, nsv1027710, nsv1031811, nsv1029923, nsv1017604, nsv1026865, nsv1023413, nsv1029591, nsv1027060, nsv1029400, nsv1024258, nsv1028070, nsv1027753, nsv1026449, nsv1020383, nsv1020771, nsv1015493, nsv1024315
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7170n100
Frequency
Sample Size11257
Observed Gain3210
Observed Loss1392
Observed Complex0
Frequencyn/a


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